Variant report

Variant	esv1813782
Chromosome Location	chr7:6673956-6706631
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1241)
CpG islands
(count:2200)
Chromatin interactive
region (count:69)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1241 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:6680032-6680221	K562	blood:	n/a	n/a
2	ATF2	chr7:6676670-6676974	GM12878	blood:	n/a	n/a
3	ATF3	chr7:6676663-6677108	GM12878	blood:	n/a	n/a
4	ATF3	chr7:6676764-6677038	K562	blood:	n/a	n/a
5	ATF3	chr7:6679904-6680092	K562	blood:	n/a	n/a
6	ATF3	chr7:6676775-6677020	GM12878	blood:	n/a	n/a
7	ATF3	chr7:6676729-6677016	HepG2	liver:	n/a	n/a
8	BACH1	chr7:6676690-6676978	K562	blood:	n/a	n/a
9	BACH1	chr7:6703886-6703996	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr7:6677373-6677430	K562	blood:	n/a	n/a
11	BACH1	chr7:6676413-6677735	H1-hESC	embryonic stem cell:	n/a	n/a
12	BATF	chr7:6679547-6679737	GM12878	blood:	n/a	n/a
13	BCL3	chr7:6693791-6694049	GM12878	blood:	n/a	n/a
14	BCL3	chr7:6693271-6693492	GM12878	blood:	n/a	n/a
15	BCL3	chr7:6676620-6677051	GM12878	blood:	n/a	chr7:6676897-6676906
16	BCLAF1	chr7:6676612-6677075	GM12878	blood:	n/a	chr7:6676897-6676906
17	BHLHE40	chr7:6676722-6677023	K562	blood:	n/a	n/a
18	BHLHE40	chr7:6676643-6677601	GM12878	blood:	n/a	chr7:6677407-6677423
19	BHLHE40	chr7:6679828-6680319	K562	blood:	n/a	n/a
20	BHLHE40	chr7:6677264-6677647	K562	blood:	n/a	chr7:6677407-6677423
21	BHLHE40	chr7:6698832-6699007	K562	blood:	n/a	n/a
22	BHLHE40	chr7:6679587-6679733	GM12878	blood:	n/a	n/a
23	BHLHE40	chr7:6698826-6699225	HepG2	liver:	n/a	n/a
24	BHLHE40	chr7:6685656-6685802	K562	blood:	n/a	n/a
25	BHLHE40	chr7:6676405-6676427	K562	blood:	n/a	n/a
26	BRCA1	chr7:6698867-6699045	H1-hESC	embryonic stem cell:	n/a	n/a
27	CBX3	chr7:6679776-6680216	K562	blood:	n/a	n/a
28	CBX3	chr7:6677286-6677693	K562	blood:	n/a	n/a
29	CBX3	chr7:6679531-6680589	K562	blood:	n/a	n/a
30	CBX3	chr7:6676642-6676930	K562	blood:	n/a	n/a
31	CCNT2	chr7:6676308-6677623	K562	blood:	n/a	n/a
32	CCNT2	chr7:6694042-6694139	K562	blood:	n/a	n/a
33	CEBPB	chr7:6699039-6699442	ECC-1	luminal epithelium:	n/a	chr7:6699226-6699237
34	CEBPB	chr7:6699089-6699426	H1-hESC	embryonic stem cell:	n/a	chr7:6699226-6699237
35	CEBPB	chr7:6679441-6679533	K562	blood:	n/a	n/a
36	CEBPB	chr7:6699157-6699396	Hela-S3	cervix:	n/a	chr7:6699226-6699237
37	CEBPB	chr7:6679380-6679580	HepG2	liver:	n/a	n/a
38	CEBPB	chr7:6698995-6699540	ECC-1	luminal epithelium:	n/a	chr7:6699226-6699237
39	CEBPB	chr7:6698891-6699407	HepG2	liver:	n/a	chr7:6699226-6699237
40	CEBPB	chr7:6679421-6679645	A549	lung:	n/a	n/a
41	CEBPB	chr7:6698987-6699470	MCF-7	breast:	n/a	chr7:6699226-6699237
42	CEBPB	chr7:6679892-6680277	K562	blood:	n/a	n/a
43	CEBPB	chr7:6679964-6680434	K562	blood:	n/a	n/a
44	CEBPB	chr7:6699055-6699407	HepG2	liver:	n/a	chr7:6699226-6699237
45	CEBPB	chr7:6699127-6699332	HepG2	liver:	n/a	chr7:6699226-6699237
46	CEBPD	chr7:6676694-6677135	HepG2	liver:	n/a	n/a
47	CEBPD	chr7:6676750-6677014	HepG2	liver:	n/a	n/a
48	CEBPD	chr7:6676684-6677078	K562	blood:	n/a	n/a
49	CHD1	chr7:6677295-6677418	GM12878	blood:	n/a	n/a
50	CHD1	chr7:6676646-6677040	GM12878	blood:	n/a	n/a

(count:2200 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:6680085-6680135	NT2-D1	testis:	n/a
2	chr7:6677265-6677315	HPAEpiC	pulmonary alveolar:	n/a
3	chr7:6674031-6674081	RPTEC	kidney:	n/a
4	chr7:6676630-6676680	SK-N-SH_RA	brain:	n/a
5	chr7:6680085-6680135	NT2-D1	testis:	n/a
6	chr7:6677265-6677315	HPAEpiC	pulmonary alveolar:	n/a
7	chr7:6674031-6674081	RPTEC	kidney:	n/a
8	chr7:6676630-6676680	SK-N-SH_RA	brain:	n/a
9	chr7:6692873-6692923	AG10803	skin:	n/a
10	chr7:6703708-6703758	ovcar-3	ovarian:	n/a
11	chr7:6703708-6703758	NHBE	bronchial:	n/a
12	chr7:6693030-6693080	HRCEpiC	kidney:	n/a
13	chr7:6694735-6694785	IMR90	lung:	fetal
14	chr7:6677265-6677315	PrEC	prostate:	n/a
15	chr7:6699526-6699576	GM12891	blood:	n/a
16	chr7:6694735-6694785	GM12892	blood:	n/a
17	chr7:6694373-6694423	T-47D	breast:	n/a
18	chr7:6693334-6693384	HMEC	breast:	n/a
19	chr7:6696120-6696170	BE2_C	brain:	n/a
20	chr7:6689218-6689268	Caco-2	colon:	n/a
21	chr7:6676168-6676218	HMEC	breast:	n/a
22	chr7:6695092-6695142	AoSMC	blood vessel:	n/a
23	chr7:6693030-6693080	HRPEpiC	eye:	n/a
24	chr7:6680085-6680135	AG09319	gingival:	n/a
25	chr7:6703803-6703853	HRPEpiC	eye:	n/a
26	chr7:6677606-6677656	NB4	blood:	n/a
27	chr7:6693838-6693888	HRE	kidney:	n/a
28	chr7:6676630-6676680	AoSMC	blood vessel:	n/a
29	chr7:6698992-6699042	HCT-116	colon:	n/a
30	chr7:6694978-6695028	Jurkat	blood:	n/a
31	chr7:6704045-6704095	HRCEpiC	kidney:	n/a
32	chr7:6698992-6699042	Hepatocyte	liver:	n/a
33	chr7:6676784-6676834	BE2_C	brain:	n/a
34	chr7:6677494-6677544	IMR90	lung:	fetal
35	chr7:6680085-6680135	PANC-1	pancreas:	n/a
36	chr7:6704045-6704095	HNPCEpiC	eye:	n/a
37	chr7:6689218-6689268	HEK293	kidney:	embryo
38	chr7:6677606-6677656	Hepatocyte	liver:	n/a
39	chr7:6694978-6695028	U87	brain:	n/a
40	chr7:6680085-6680135	GM12892	blood:	n/a
41	chr7:6703803-6703853	RPTEC	kidney:	n/a
42	chr7:6693334-6693384	GM12892	blood:	n/a
43	chr7:6703708-6703758	BE2_C	brain:	n/a
44	chr7:6696120-6696170	MCF-7	breast:	n/a
45	chr7:6695092-6695142	HRE	kidney:	n/a
46	chr7:6676630-6676680	SK-N-SH	brain:	n/a
47	chr7:6689218-6689268	HCF	heart:	n/a
48	chr7:6704194-6704244	U87	brain:	n/a
49	chr7:6703803-6703853	GM06990	blood:	n/a
50	chr7:6704045-6704095	HCF	heart:	n/a

(count:69 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:6628215..6631115-chr7:6675239..6679126,9	MCF-7	breast:
2	chr7:6674759..6677679-chr7:6692100..6694240,3	MCF-7	breast:
3	chr7:6677446..6679002-chr7:6745294..6747715,2	K562	blood:
4	chr17:41465185..41465700-chr7:6676633..6677215,2	Hela-S3	cervix:
5	chr7:6672567..6674181-chr7:6688854..6690680,2	K562	blood:
6	chr7:6660093..6661828-chr7:6695492..6697100,2	MCF-7	breast:
7	chr7:6674209..6679608-chr7:6682918..6689628,9	K562	blood:
8	chr7:6615800..6617832-chr7:6677563..6680150,2	MCF-7	breast:
9	chr7:6641830..6642345-chr7:6698974..6699620,2	MCF-7	breast:
10	chr7:6629079..6630175-chr7:6676992..6678000,4	MCF-7	breast:
11	chr7:6676568..6678542-chr7:6699146..6700802,2	MCF-7	breast:
12	chr7:6668677..6671566-chr7:6683216..6685538,2	MCF-7	breast:
13	chr7:6614762..6617092-chr7:6682142..6684739,2	K562	blood:
14	chr17:57920745..57921576-chr7:6676970..6677850,2	HCT-116	colon:
15	chr7:6522385..6525546-chr7:6675389..6679461,5	MCF-7	breast:
16	chr7:6641654..6643210-chr7:6674814..6676517,2	MCF-7	breast:
17	chr7:6683480..6686518-chr7:6689197..6691289,3	MCF-7	breast:
18	chr7:6672567..6674181-chr7:6688854..6690680,2	K562	blood:
19	chr7:6676518..6678447-chr7:6694438..6696514,2	MCF-7	breast:
20	chr7:6681243..6682856-chr7:6746246..6748831,2	K562	blood:
21	chr7:6689485..6692014-chr7:6722455..6725146,3	MCF-7	breast:
22	chr7:6675529..6677980-chr7:6768487..6770695,2	K562	blood:
23	chr7:6680998..6682837-chr7:6692889..6695214,2	MCF-7	breast:
24	chr7:6676518..6678447-chr7:6694438..6696514,2	MCF-7	breast:
25	chr7:6702535..6704854-chr7:6706365..6710112,3	K562	blood:
26	chr7:6694849..6698438-chr7:6699530..6702045,3	K562	blood:
27	chr7:6675962..6678642-chr7:6744432..6748032,4	MCF-7	breast:
28	chr7:6700299..6703221-chr7:6744305..6746051,2	MCF-7	breast:
29	chr7:6698245..6699981-chr7:6737287..6739036,2	MCF-7	breast:
30	chr7:6687023..6688997-chr7:6745010..6747605,2	K562	blood:
31	chr7:6637338..6640081-chr7:6675258..6678566,5	MCF-7	breast:
32	chr7:6650218..6651893-chr7:6687593..6690254,2	K562	blood:
33	chr7:6679487..6682483-chr7:6695124..6696654,2	MCF-7	breast:
34	chr7:6683236..6686038-chr7:6768255..6771021,2	K562	blood:
35	chr7:6682112..6684474-chr7:6686272..6690280,3	MCF-7	breast:
36	chr7:6688371..6689911-chr7:6696909..6698726,2	K562	blood:
37	chr7:6675838..6678415-chr7:6696567..6699140,4	MCF-7	breast:
38	chr7:6669640..6671625-chr7:6687041..6689974,2	MCF-7	breast:
39	chr7:6682112..6684474-chr7:6686272..6690280,3	MCF-7	breast:
40	chr7:6668305..6670110-chr7:6679585..6681865,2	MCF-7	breast:
41	chr7:6626891..6631454-chr7:6676260..6679154,6	K562	blood:
42	chr7:6685863..6688294-chr7:6688920..6690681,2	MCF-7	breast:
43	chr7:6541950..6543739-chr7:6677071..6679453,2	K562	blood:
44	chr7:6675427..6681659-chr7:6684293..6688490,10	MCF-7	breast:
45	chr7:6680998..6682837-chr7:6692889..6695214,2	MCF-7	breast:
46	chr7:6675369..6676975-chr7:6698332..6700533,2	MCF-7	breast:
47	chr7:6627001..6634994-chr7:6673643..6681623,15	MCF-7	breast:
48	chr7:6676193..6679067-chr7:6744810..6746794,4	K562	blood:
49	chr7:6674043..6676883-chr7:6677067..6680291,5	K562	blood:
50	chr7:6698325..6700210-chr7:6703299..6704869,2	MCF-7	breast:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC073343.1-1	chr7:6703605-6703674	ENSG00000228010.1
2	lnc-AC073343.1-1	chr7:6704675-6704739	ENSG00000228010.1
3	lnc-AC073343.1-2	chr7:6694495-6696063	ENSG00000260054.1
4	lnc-AC073343.1-1	chr7:6703605-6703674	ENSG00000228010.1
5	lnc-AC073343.1-1	chr7:6704675-6705152	NONHSAT119056
6	lnc-AC073343.1-1	chr7:6704675-6704739	NONHSAT119055
7	lnc-AC073343.1-1	chr7:6703605-6703674	ENSG00000228010.1
8	lnc-AC073343.1-1	chr7:6704675-6705152	ENSG00000228010.1
9	lnc-ZNF853-2	chr7:6679361-6680635	ucscGeneNc_uc003sqr_1
10	lnc-AC073343.1-1	chr7:6703605-6703674	NONHSAT119056
11	lnc-AC073343.1-1	chr7:6703605-6703674	NONHSAT119055
12	lnc-AC073343.1-1	chr7:6704675-6704739	ENSG00000228010.1

No data

Variant related genes	Relation type
ZNF316	TF binding region
ENSG00000260054	TF binding region
ENSG00000228010	TF binding region
ZNF316	CpG island
ENSG00000260054	CpG island
ENSG00000228010	CpG island
ENSG00000232581	chromatin interactions
ENSG00000215045	chromatin interactions
ENSG00000136240	chromatin interactions
ENSG00000260054	chromatin interactions
ENSG00000164631	chromatin interactions
ENSG00000135482	chromatin interactions
ENSG00000187953	chromatin interactions
ENSG00000236609	chromatin interactions
ENSG00000228010	chromatin interactions
ENSG00000269781	chromatin interactions
ENSG00000139641	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000198580	chromatin interactions
ENSG00000205903	chromatin interactions
ENSG00000146576	chromatin interactions
ENSG00000077150	chromatin interactions
ENSG00000136247	chromatin interactions

Extended variants
information (count: 1460 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:1460 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7800712	chr7:6673956-6673957	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542626721	chr7:6673991-6673992	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs549470319	chr7:6673994-6673995	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs11526211	chr7:6674010-6674011	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs528447043	chr7:6674030-6674031	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs546671184	chr7:6674032-6674033	Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs571664605	chr7:6674085-6674086	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs539329747	chr7:6674098-6674099	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs541631826	chr7:6674116-6674117	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs557667522	chr7:6674135-6674136	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs569482969	chr7:6674137-6674138	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs536848366	chr7:6674186-6674187	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs137902722	chr7:6674208-6674209	Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs573642630	chr7:6674256-6674257	Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs117969982	chr7:6674300-6674301	Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs377085508	chr7:6674375-6674376	Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs566998998	chr7:6674439-6674440	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs188419699	chr7:6674441-6674442	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs558674433	chr7:6674446-6674447	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs373108690	chr7:6674447-6674448	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs552224438	chr7:6674452-6674453	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs576640374	chr7:6674455-6674456	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs563995077	chr7:6674462-6674463	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs35792047	chr7:6674496-6674497	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs192891781	chr7:6674505-6674506	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs561570301	chr7:6674506-6674507	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs528577146	chr7:6674539-6674540	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs556066561	chr7:6674543-6674544	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs372097815	chr7:6674578-6674579	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs547101156	chr7:6674604-6674605	Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs571294480	chr7:6674615-6674616	Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs532388927	chr7:6674667-6674668	Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs551211810	chr7:6674672-6674673	Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs111574685	chr7:6674676-6674677	Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs536988257	chr7:6674697-6674698	Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs540953898	chr7:6674703-6674704	Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs548900506	chr7:6674721-6674722	Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs115446023	chr7:6674724-6674725	Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs534404645	chr7:6674754-6674755	Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs145856080	chr7:6674764-6674765	Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs13237018	chr7:6674848-6674849	Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs13227497	chr7:6674858-6674859	Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs184425069	chr7:6674879-6674880	Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs138497986	chr7:6674881-6674882	Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs376265114	chr7:6674913-6674914	Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs375836643	chr7:6674914-6674915	Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs543355403	chr7:6674930-6674931	Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs561303862	chr7:6675013-6675014	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs573422009	chr7:6675015-6675016	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs7797473	chr7:6675035-6675036	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	21525872	CNVD
Autism	20685689	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:1686 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6656000-6676000	Weak transcription	Psoas Muscle	Psoas
2	chr7:6656200-6675800	Weak transcription	HSMM	muscle
3	chr7:6656800-6675800	Weak transcription	Fetal Brain Male	brain
4	chr7:6660200-6676000	Weak transcription	Colonic Mucosa	Colon
5	chr7:6661800-6675800	Weak transcription	Pancreas	Pancrea
6	chr7:6661800-6676000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr7:6661800-6676200	Weak transcription	Right Atrium	heart
8	chr7:6662800-6676000	Weak transcription	Colon Smooth Muscle	Colon
9	chr7:6663200-6676000	Weak transcription	Brain Anterior Caudate	brain
10	chr7:6663200-6676000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr7:6663800-6676000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:6663800-6676000	Weak transcription	Brain Angular Gyrus	brain
13	chr7:6663800-6676000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr7:6663800-6676000	Weak transcription	Brain Substantia Nigra	brain
15	chr7:6663800-6676000	Weak transcription	Fetal Intestine Large	intestine
16	chr7:6663800-6676000	Weak transcription	Gastric	stomach
17	chr7:6663800-6676000	Weak transcription	Left Ventricle	heart
18	chr7:6663800-6676000	Weak transcription	Lung	lung
19	chr7:6663800-6676000	Weak transcription	Right Ventricle	heart
20	chr7:6663800-6676000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr7:6664000-6675800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr7:6664000-6676000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr7:6664200-6676000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr7:6664200-6676000	Weak transcription	Ovary	ovary
25	chr7:6664400-6675200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr7:6664400-6676000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:6665200-6675800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr7:6665200-6676000	Weak transcription	Brain Germinal Matrix	brain
29	chr7:6665400-6675800	Weak transcription	Fetal Lung	lung
30	chr7:6665400-6675800	Weak transcription	Fetal Muscle Leg	muscle
31	chr7:6665400-6676000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr7:6665400-6676000	Weak transcription	Brain Hippocampus Middle	brain
33	chr7:6665600-6675800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr7:6665600-6676000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr7:6666000-6676000	Weak transcription	Fetal Brain Female	brain
36	chr7:6668200-6675200	Weak transcription	Spleen	Spleen
37	chr7:6670200-6675200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:6670400-6674000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr7:6670400-6676000	Weak transcription	Fetal Intestine Small	intestine
40	chr7:6670600-6676000	Weak transcription	Placenta	Placenta
41	chr7:6671800-6675200	Weak transcription	Esophagus	oesophagus
42	chr7:6671800-6675800	Weak transcription	HMEC	breast
43	chr7:6672000-6676000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr7:6673200-6674000	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr7:6673400-6675000	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr7:6673600-6674000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr7:6674000-6674200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr7:6674000-6675000	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr7:6674000-6675200	Weak transcription	Fetal Muscle Trunk	muscle
50	chr7:6674000-6675600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood

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