Variant report

Variant	esv1825750
Chromosome Location	chr7:27200918-27227027
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1383)
CpG islands
(count:7571)
Chromatin interactive
region (count:85)
LncRNA
region (count:16)
Mature miRNA
region (count: 2)
miRNA target
sites (count:14)

(count:1383 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:27219353-27219704	HepG2	liver:	n/a	n/a
2	ATF3	chr7:27205041-27205395	H1-hESC	embryonic stem cell:	n/a	chr7:27205195-27205204
3	ATF3	chr7:27205081-27205347	H1-hESC	embryonic stem cell:	n/a	chr7:27205195-27205204
4	ATF3	chr7:27200547-27200946	GM12878	blood:	n/a	n/a
5	BACH1	chr7:27200767-27200977	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCLAF1	chr7:27200463-27200972	GM12878	blood:	n/a	n/a
7	BCLAF1	chr7:27200547-27200942	GM12878	blood:	n/a	n/a
8	BHLHE40	chr7:27200175-27200938	GM12878	blood:	n/a	chr7:27200276-27200292
9	BHLHE40	chr7:27200582-27200924	K562	blood:	n/a	n/a
10	BHLHE40	chr7:27219467-27219584	K562	blood:	n/a	n/a
11	BRCA1	chr7:27219354-27219640	H1-hESC	embryonic stem cell:	n/a	n/a
12	BRCA1	chr7:27224633-27225033	Hela-S3	cervix:	n/a	n/a
13	BRCA1	chr7:27219260-27219702	Hela-S3	cervix:	n/a	n/a
14	BRCA1	chr7:27211579-27211773	Hela-S3	cervix:	n/a	n/a
15	BRCA1	chr7:27209270-27209470	Hela-S3	cervix:	n/a	n/a
16	BRCA1	chr7:27213264-27213449	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr7:27212027-27212412	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr7:27212613-27212786	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr7:27202090-27202187	K562	blood:	n/a	chr7:27202140-27202151
20	CEBPB	chr7:27219083-27219635	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr7:27201991-27202284	HepG2	liver:	n/a	chr7:27202140-27202151
22	CEBPB	chr7:27223603-27225196	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr7:27224835-27225034	H1-hESC	embryonic stem cell:	n/a	n/a
24	CEBPB	chr7:27209166-27209523	Hela-S3	cervix:	n/a	n/a
25	CHD1	chr7:27199994-27201688	IMR90	lung:	n/a	chr7:27200536-27200546
26	CHD2	chr7:27224385-27224508	GM12878	blood:	n/a	n/a
27	CHD2	chr7:27205063-27205286	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD2	chr7:27208759-27209950	Hela-S3	cervix:	n/a	n/a
29	CHD2	chr7:27200602-27200928	GM12878	blood:	n/a	n/a
30	CHD2	chr7:27219271-27219558	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD2	chr7:27223467-27225105	Hela-S3	cervix:	n/a	n/a
32	CHD2	chr7:27219172-27219691	Hela-S3	cervix:	n/a	n/a
33	CHD2	chr7:27200634-27200967	Hela-S3	cervix:	n/a	n/a
34	CHD2	chr7:27223001-27223133	Hela-S3	cervix:	n/a	n/a
35	CHD2	chr7:27222908-27223033	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD2	chr7:27213949-27214271	Hela-S3	cervix:	n/a	chr7:27214201-27214211
37	CHD2	chr7:27212121-27213426	Hela-S3	cervix:	n/a	chr7:27212614-27212624
38	CHD2	chr7:27219203-27219556	HepG2	liver:	n/a	n/a
39	CREB1	chr7:27219370-27219866	A549	lung:	n/a	n/a
40	CREB1	chr7:27200283-27200936	A549	lung:	n/a	n/a
41	CREB1	chr7:27223953-27224232	H1-hESC	embryonic stem cell:	n/a	n/a
42	CREB1	chr7:27223817-27224281	A549	lung:	n/a	n/a
43	CREB1	chr7:27223787-27224170	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTBP2	chr7:27223661-27224698	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTBP2	chr7:27203932-27205359	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTBP2	chr7:27212190-27214005	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTBP2	chr7:27224973-27226029	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTBP2	chr7:27205710-27207168	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTBP2	chr7:27211006-27211807	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTBP2	chr7:27200303-27200982	H1-hESC	embryonic stem cell:	n/a	n/a

(count:7571 , 50 per page) page: 1 2 3 4 5 6 7 ... 152

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:27213893-27213943	GM06990	blood:	n/a
2	chr7:27225222-27225272	A549	lung:	n/a
3	chr7:27208885-27208935	ovcar-3	ovarian:	n/a
4	chr7:27224460-27224510	HAEpiC	amniotic membrane:	n/a
5	chr7:27211741-27211791	HL-60	blood:	n/a
6	chr7:27226148-27226198	MCF10A-Er-Src	breast:	n/a
7	chr7:27225865-27225915	RPTEC	kidney:	n/a
8	chr7:27213893-27213943	GM06990	blood:	n/a
9	chr7:27225222-27225272	A549	lung:	n/a
10	chr7:27208885-27208935	ovcar-3	ovarian:	n/a
11	chr7:27224460-27224510	HAEpiC	amniotic membrane:	n/a
12	chr7:27211741-27211791	HL-60	blood:	n/a
13	chr7:27226148-27226198	MCF10A-Er-Src	breast:	n/a
14	chr7:27225865-27225915	RPTEC	kidney:	n/a
15	chr7:27213966-27214016	A549	lung:	n/a
16	chr7:27211741-27211791	NB4	blood:	n/a
17	chr7:27204981-27205031	RPTEC	kidney:	n/a
18	chr7:27212870-27212920	ovcar-3	ovarian:	n/a
19	chr7:27211741-27211791	T-47D	breast:	n/a
20	chr7:27202344-27202394	GM19239	blood:	n/a
21	chr7:27225058-27225108	GM06990	blood:	n/a
22	chr7:27203546-27203596	NHDF-neo	bronchial:	n/a
23	chr7:27225523-27225573	BE2_C	brain:	n/a
24	chr7:27209270-27209320	MCF-7	breast:	n/a
25	chr7:27205504-27205554	PrEC	prostate:	n/a
26	chr7:27209197-27209247	AG04450	lung:	fetal
27	chr7:27225865-27225915	HPAEpiC	pulmonary alveolar:	n/a
28	chr7:27204894-27204944	IMR90	lung:	fetal
29	chr7:27221557-27221607	PrEC	prostate:	n/a
30	chr7:27212935-27212985	CMK	blood:	n/a
31	chr7:27225319-27225369	ovcar-3	ovarian:	n/a
32	chr7:27205114-27205164	HCM	heart:	n/a
33	chr7:27220983-27221033	MCF10A-Er-Src	breast:	n/a
34	chr7:27225078-27225128	U87	brain:	n/a
35	chr7:27220398-27220448	HMEC	breast:	n/a
36	chr7:27212935-27212985	HEEpiC	esophagus:	n/a
37	chr7:27206461-27206511	HRPEpiC	eye:	n/a
38	chr7:27205504-27205554	HepG2	liver:	n/a
39	chr7:27205114-27205164	AG10803	skin:	n/a
40	chr7:27205381-27205431	HEK293	kidney:	embryo
41	chr7:27224873-27224923	AG04450	lung:	fetal
42	chr7:27225733-27225783	HIPEpiC	eye:	n/a
43	chr7:27211741-27211791	HRE	kidney:	n/a
44	chr7:27203430-27203480	PANC-1	pancreas:	n/a
45	chr7:27225485-27225535	HCM	heart:	n/a
46	chr7:27209350-27209400	BJ	skin:	n/a
47	chr7:27224873-27224923	GM06990	blood:	n/a
48	chr7:27204894-27204944	Hepatocyte	liver:	n/a
49	chr7:27209350-27209400	GM12878	blood:	n/a
50	chr7:27204894-27204944	CMK	blood:	n/a

(count:85 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:33440961..33441526-chr7:27224543..27225088,2	Hela-S3	cervix:
2	7:27176959-27181770..7:27201208-27202386	H1-hESC	embryonic stem cell:	embryo
3	chr7:26721156..26722065-chr7:27200580..27201256,2	K562	blood:
4	chr7:26227531..26229073-chr7:27198944..27201412,2	K562	blood:
5	chr7:27190086..27191111-chr7:27200198..27201535,13	MCF-7	breast:
6	chr22:43010638..43011262-chr7:27210750..27211594,2	HCT-116	colon:
7	chr7:27200689..27201394-chr7:27213410..27214189,2	NB4	blood:
8	chr7:27211408..27213705-chr7:27214550..27217116,2	MCF-7	breast:
9	chr7:27219032..27220878-chr7:27222299..27224136,2	MCF-7	breast:
10	chr7:26721413..26722057-chr7:27200291..27201200,4	MCF-7	breast:
11	chr12:54673872..54674764-chr7:27224674..27225242,2	Hela-S3	cervix:
12	chr2:38604107..38604660-chr7:27218731..27219582,2	Hela-S3	cervix:
13	chr1:28974951..28975568-chr7:27213884..27214792,2	Hela-S3	cervix:
14	chr7:26238165..26241346-chr7:27198877..27201770,4	MCF-7	breast:
15	chr10:374998..375630-chr7:27224362..27225025,2	Hela-S3	cervix:
16	chr7:27203892..27207242-chr7:27209723..27213341,3	MCF-7	breast:
17	chr7:27223543..27225777-chr7:28060151..28062012,2	MCF-7	breast:
18	chr7:27217387..27219616-chr7:27222559..27224587,2	K562	blood:
19	chr2:86850155..86850837-chr7:27224722..27225222,2	Hela-S3	cervix:
20	chr22:43010791..43011430-chr7:27224571..27225361,2	Hela-S3	cervix:
21	chr7:27183139..27183901-chr7:27200335..27201099,3	MCF-7	breast:
22	chr12:52446489..52447790-chr7:27223647..27224601,3	Hela-S3	cervix:
23	chr15:72409969..72410917-chr7:27223870..27224480,2	Hela-S3	cervix:
24	chr7:27219637..27221411-chr7:27224788..27226339,2	K562	blood:
25	7:27162022-27164727..7:27216170-27221403	H1-hESC	embryonic stem cell:	embryo
26	7:27203007-27207968..7:27230275-27238414	H1-hESC	embryonic stem cell:	embryo
27	7:27162022-27164727..7:27203007-27207968	H1-hESC	embryonic stem cell:	embryo
28	chr1:159894463..159895249-chr7:27224803..27225405,2	Hela-S3	cervix:
29	chr7:27201693..27204109-chr7:27205812..27207628,2	K562	blood:
30	chr7:27219637..27221411-chr7:27224788..27226339,2	K562	blood:
31	chr2:55276297..55276976-chr7:27216036..27216949,2	Hela-S3	cervix:
32	chr2:190648522..190649281-chr7:27224530..27225300,2	Hela-S3	cervix:
33	chr7:27190167..27191138-chr7:27200376..27201155,3	MCF-7	breast:
34	chr7:27190534..27191089-chr7:27200653..27201204,2	K562	blood:
35	chr12:42719835..42720410-chr7:27224445..27225440,2	Hela-S3	cervix:
36	chr7:27203892..27207242-chr7:27209723..27213341,3	MCF-7	breast:
37	chr16:89283879..89284527-chr7:27204643..27205247,2	HCT-116	colon:
38	chr7:27204665..27205348-chr8:29208036..29208824,2	HCT-116	colon:
39	chr7:26725689..26726610-chr7:27200641..27201297,2	MCF-7	breast:
40	chr7:27213270..27217080-chr7:27217116..27219781,5	MCF-7	breast:
41	chr7:25932300..25932849-chr7:27200332..27201172,2	K562	blood:
42	chr15:91445636..91446244-chr7:27224618..27225247,2	Hela-S3	cervix:
43	chr7:26725724..26726744-chr7:27200278..27201244,5	K562	blood:
44	chr7:27217387..27221298-chr7:27222278..27226013,4	K562	blood:
45	chr7:27225108..27225793-chrX:130036788..130037288,2	Hela-S3	cervix:
46	chr1:155242577..155243301-chr7:27224203..27225069,2	Hela-S3	cervix:
47	chr7:27202891..27205946-chr7:27211956..27215443,3	MCF-7	breast:
48	chr16:9057475..9058449-chr7:27204192..27204953,2	HCT-116	colon:
49	chr1:1167343..1167894-chr7:27212710..27213260,2	NB4	blood:
50	chr7:27212193..27213069-chr7:27224455..27225318,2	Hela-S3	cervix:

(count:16 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EVX1-5	chr7:27224967-27225882	XLOC_006025
2	lnc-HOXA13-2	chr7:27226192-27226442	ENSG00000253508.1
3	lnc-EVX1-5	chr7:27226302-27226740	ENSG00000240990.4
4	lnc-EVX1-7	chr7:27208238-27208612	ENSG00000253187.2
5	lnc-EVX1-7	chr7:27210927-27211384	ENSG00000253187.2
6	lnc-EVX1-7	chr7:27210927-27210992	ENSG00000253187.2
7	lnc-EVX1-5	chr7:27225032-27225251	ENSG00000240990.4
8	lnc-EVX1-5	chr7:27225027-27225882	XLOC_006025
9	lnc-EVX1-7	chr7:27208518-27208612	ENSG00000253187.2
10	lnc-EVX1-7	chr7:27208926-27209383	ENSG00000253187.2
11	lnc-HOXA13-1	chr7:27226866-27231685	XLOC_006390
12	lnc-EVX1-7	chr7:27210927-27211534	ENSG00000253187.2
13	lnc-EVX1-5	chr7:27226302-27226488	XLOC_006025
14	lnc-EVX1-5	chr7:27225739-27225882	ENSG00000240990.4
15	lnc-EVX1-7	chr7:27208713-27209383	ENSG00000253187.2
16	lnc-EVX1-5	chr7:27225153-27225882	ENSG00000240990.4

miRNA name	Chromosome Location	mirBase accession
hsa-miR-196b-3p	chr7:27209112-27209133	MIMAT0009201
hsa-miR-196b-5p	chr7:27209147-27209168	MIMAT0001080

(count:14 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	HOXA11	hsa-miR-30d-5p	chr7:27221241-27221234
2	HOXA11	hsa-miR-30d-5p	chr7:27221235-27221256
3	HOXA11	hsa-miR-335-5p	chr7:27221418-27221441
4	HOXA9	hsa-miR-96-5p	chr7:27202080-27202102
5	HOXA10	hsa-miR-320a	chr7:27210218-27210239
6	HOXA9	hsa-miR-33a-5p	chr7:27202861-27202881
7	HOXA9	hsa-miR-324-5p	chr7:27202513-27202535
8	HOXA10	hsa-miR-204-5p	chr7:27210459-27210477
9	HOXA10	hsa-miR-320a	chr7:27210856-27210877
10	HOXA10	hsa-miR-320a	chr7:27210862-27210855
11	HOXA9	hsa-miR-26b-5p	chr7:27202776-27202769
12	HOXA9	hsa-miR-18a-5p	chr7:27202488-27202510
13	HOXA9	hsa-miR-26b-5p	chr7:27202770-27202790
14	HOXA9	hsa-miR-340-5p	chr7:27202866-27202887

Variant related genes	Relation type
HOXA11-AS	TF binding region
HOXA7	TF binding region
HOXA11	TF binding region
HOXA10-AS	TF binding region
HOXA9	TF binding region
HOXA10	TF binding region
ENSG00000257184	TF binding region
MIR196B	TF binding region
HOXA11-AS	CpG island
HOXA7	CpG island
HOXA11	CpG island
HOXA10-AS	CpG island
HOXA9	CpG island
HOXA10	CpG island
ENSG00000257184	CpG island
MIR196B	CpG island
ENSG00000106031	chromatin interactions
ENSG00000100227	chromatin interactions
ENSG00000228395	chromatin interactions
ENSG00000170100	chromatin interactions
ENSG00000253293	chromatin interactions
ENSG00000176022	chromatin interactions
ENSG00000081154	chromatin interactions
ENSG00000136045	chromatin interactions
ENSG00000197694	chromatin interactions
ENSG00000013523	chromatin interactions
ENSG00000122565	chromatin interactions
ENSG00000266751	chromatin interactions
ENSG00000257184	chromatin interactions
ENSG00000113575	chromatin interactions
ENSG00000123358	chromatin interactions
ENSG00000122592	chromatin interactions
ENSG00000094916	chromatin interactions
ENSG00000151876	chromatin interactions
ENSG00000159216	chromatin interactions
ENSG00000272772	chromatin interactions
ENSG00000153814	chromatin interactions
ENSG00000106004	chromatin interactions
ENSG00000254369	chromatin interactions
ENSG00000270022	chromatin interactions
ENSG00000266559	chromatin interactions
ENSG00000120875	chromatin interactions
ENSG00000239305	chromatin interactions
ENSG00000135486	chromatin interactions
ENSG00000177548	chromatin interactions
ENSG00000259877	chromatin interactions
ENSG00000171940	chromatin interactions
ENSG00000176444	chromatin interactions
ENSG00000119787	chromatin interactions
ENSG00000214869	chromatin interactions
ENSG00000151240	chromatin interactions
ENSG00000005073	chromatin interactions
ENSG00000253552	chromatin interactions
ENSG00000266055	chromatin interactions
ENSG00000240990	chromatin interactions
ENSG00000078808	chromatin interactions
ENSG00000166192	chromatin interactions
ENSG00000187555	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000158710	chromatin interactions
ENSG00000139168	chromatin interactions
ENSG00000100726	chromatin interactions
ENSG00000203804	chromatin interactions
ENSG00000257052	chromatin interactions
ENSG00000115310	chromatin interactions
ENSG00000270177	chromatin interactions
ENSG00000078399	chromatin interactions
ENSG00000066933	chromatin interactions
ENSG00000113407	chromatin interactions
ENSG00000105997	chromatin interactions
ENSG00000122566	chromatin interactions
ENSG00000064933	chromatin interactions
ENSG00000253508	chromatin interactions
ENSG00000110697	chromatin interactions
ENSG00000270103	chromatin interactions
ENSG00000130826	chromatin interactions
ENSG00000243766	chromatin interactions
ENSG00000196547	chromatin interactions
ENSG00000106006	chromatin interactions
ENSG00000165675	chromatin interactions
ENSG00000128699	chromatin interactions
ENSG00000134283	chromatin interactions
IARS	Mature miRNA region
WHSC1L1	Mature miRNA region
BEST3	Mature miRNA region
LHX2	Mature miRNA region
MT-CO3	Mature miRNA region
BCAR3	Mature miRNA region
ATF4	Mature miRNA region
PALD1	Mature miRNA region
HOXB8	Mature miRNA region
MRPS35	Mature miRNA region
CKB	Mature miRNA region
SLC6A15	Mature miRNA region
TRA2A	Mature miRNA region
MAPRE1	Mature miRNA region
MEPCE	Mature miRNA region
KMT2D	Mature miRNA region
CDK5R1	Mature miRNA region
GPS1	Mature miRNA region
HOXC8	Mature miRNA region
TXLNA	Mature miRNA region
AJUBA	Mature miRNA region
MAT2A	Mature miRNA region
HSD17B10	Mature miRNA region
CACNB3	Mature miRNA region
CHD2	Mature miRNA region
TUBB	Mature miRNA region
MFHAS1	Mature miRNA region
BUB1	Mature miRNA region
MSH6	Mature miRNA region
TXNDC5	Mature miRNA region
GNB2L1	Mature miRNA region
PRKACA	Mature miRNA region
MT-ND5	Mature miRNA region
RTF1	Mature miRNA region
SLC23A2	Mature miRNA region
RRP1B	Mature miRNA region
PAXBP1	Mature miRNA region
RPS3	Mature miRNA region
BCL2	Mature miRNA region
REEP5	Mature miRNA region
PDE12	Mature miRNA region
HTR1D	Mature miRNA region
LAMB2	Mature miRNA region
MRPS26	Mature miRNA region
TLE3	Mature miRNA region
HERC2	Mature miRNA region
ALDOA	Mature miRNA region
MT-ATP6	Mature miRNA region
CD8A	Mature miRNA region
SNX9	Mature miRNA region
TBC1D1	miRNA target sites

Extended variants
information (count: 1147 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1147 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78296415	chr7:27200965-27200966	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs554648635	chr7:27200967-27200968	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs574392609	chr7:27200971-27200972	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs376174571	chr7:27200995-27200996	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs565276019	chr7:27201006-27201007	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs373640048	chr7:27201010-27201011	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs544106565	chr7:27201078-27201079	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs565507588	chr7:27201157-27201158	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs377158043	chr7:27201202-27201203	Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs112881087	chr7:27201255-27201256	Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs12530948	chr7:27201258-27201259	Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs529951966	chr7:27201281-27201282	Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs561442668	chr7:27201341-27201342	Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs372895353	chr7:27201345-27201346	Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs76934269	chr7:27201349-27201350	Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs533504139	chr7:27201351-27201352	Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs57870415	chr7:27201355-27201356	Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs530090014	chr7:27201468-27201469	Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs875896	chr7:27201532-27201533	Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs569677228	chr7:27201537-27201538	Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs192745579	chr7:27201571-27201572	Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs184742039	chr7:27201577-27201578	Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs565785890	chr7:27201653-27201654	Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs534809856	chr7:27201682-27201683	Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs559720303	chr7:27201722-27201723	Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs373846517	chr7:27201728-27201729	Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs532054403	chr7:27201732-27201733	Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs568151369	chr7:27201733-27201734	Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs536721422	chr7:27201743-27201744	Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs557011928	chr7:27201803-27201804	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs576893232	chr7:27201806-27201807	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs545762644	chr7:27201815-27201816	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs559284320	chr7:27201864-27201865	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs572609950	chr7:27201866-27201867	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs41304927	chr7:27201932-27201933	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs541615479	chr7:27201956-27201957	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs561294242	chr7:27201979-27201980	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs530226198	chr7:27202014-27202015	Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs543493227	chr7:27202039-27202040	Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs552137702	chr7:27202046-27202047	Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs35335761	chr7:27202109-27202110	Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs563289988	chr7:27202113-27202114	Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs190122610	chr7:27202168-27202169	Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs530685033	chr7:27202249-27202250	Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs532370978	chr7:27202261-27202262	Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs552096220	chr7:27202269-27202270	Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs181737685	chr7:27202285-27202286	Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs565976296	chr7:27202287-27202288	Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs10259620	chr7:27202289-27202290	Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs548387720	chr7:27202323-27202324	Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17086460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2014 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27186800-27202600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr7:27195400-27203200	Active TSS	Rectal Smooth Muscle	rectum
3	chr7:27196600-27201000	Flanking Active TSS	HUVEC	blood vessel
4	chr7:27197600-27201400	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr7:27198400-27201800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr7:27199400-27201000	Flanking Active TSS	HMEC	breast
7	chr7:27199600-27201000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:27199600-27201200	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr7:27199600-27201400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:27199600-27201600	Active TSS	Osteobl	bone
11	chr7:27199600-27202600	Active TSS	Fetal Kidney	kidney
12	chr7:27199600-27206400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:27199800-27201000	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
14	chr7:27199800-27201000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
15	chr7:27199800-27201000	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr7:27199800-27201000	Enhancers	Lung	lung
17	chr7:27199800-27201200	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
18	chr7:27199800-27201200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
19	chr7:27199800-27201200	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:27199800-27201200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
21	chr7:27199800-27201200	Bivalent Enhancer	Fetal Brain Male	brain
22	chr7:27199800-27201600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:27199800-27203400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
24	chr7:27200000-27201000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
25	chr7:27200000-27201000	Bivalent/Poised TSS	Primary T killer memory cells from peripheral blood	blood
26	chr7:27200000-27201000	Flanking Active TSS	Liver	Liver
27	chr7:27200000-27201000	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
28	chr7:27200000-27201000	Active TSS	Sigmoid Colon	Sigmoid Colon
29	chr7:27200000-27201000	Bivalent/Poised TSS	Small Intestine	intestine
30	chr7:27200000-27201200	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
31	chr7:27200000-27201200	Active TSS	Right Atrium	heart
32	chr7:27200000-27201200	Flanking Bivalent TSS/Enh	Thymus	Thymus
33	chr7:27200000-27201200	Active TSS	A549	lung
34	chr7:27200000-27201400	Active TSS	Rectal Mucosa Donor 31	rectum
35	chr7:27200000-27201800	Active TSS	Colonic Mucosa	Colon
36	chr7:27200000-27204400	Active TSS	Colon Smooth Muscle	Colon
37	chr7:27200000-27206000	Active TSS	NHDF-Ad	bronchial
38	chr7:27200200-27201000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
39	chr7:27200200-27201000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
40	chr7:27200200-27201000	Active TSS	Primary T cells from cord blood	blood
41	chr7:27200200-27201000	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 1	blood
42	chr7:27200200-27201000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
43	chr7:27200200-27201000	Bivalent/Poised TSS	Esophagus	oesophagus
44	chr7:27200200-27201000	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
45	chr7:27200200-27201000	Bivalent Enhancer	Fetal Heart	heart
46	chr7:27200200-27201000	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr7:27200200-27201000	Flanking Active TSS	Pancreas	Pancrea
48	chr7:27200200-27201000	Flanking Active TSS	Right Ventricle	heart
49	chr7:27200200-27201200	Active TSS	Aorta	Aorta
50	chr7:27200200-27201200	Active TSS	Brain Angular Gyrus	brain

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