Variant report

Variant	nsv870188
Chromosome Location	chr5:179218824-179235424
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2186)
CpG islands
(count:3054)
Chromatin interactive
region (count:58)
LncRNA
region (count:7)
Mature miRNA
region (count: 2)
miRNA target
sites (count:0)

(count:2186 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:179228954-179229015	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:179233798-179233910	HepG2	liver:	n/a	n/a
3	ARID3A	chr5:179235335-179235623	HepG2	liver:	n/a	n/a
4	ARID3A	chr5:179234889-179235089	HepG2	liver:	n/a	n/a
5	ATF2	chr5:179222984-179223659	GM12878	blood:	n/a	n/a
6	ATF2	chr5:179228820-179229198	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr5:179223385-179223971	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr5:179223566-179223919	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF3	chr5:179232903-179233159	K562	blood:	n/a	chr5:179233081-179233090
10	ATF3	chr5:179223092-179223504	A549	lung:	n/a	n/a
11	ATF3	chr5:179228750-179229220	A549	lung:	n/a	n/a
12	BACH1	chr5:179222270-179223747	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr5:179233933-179234497	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr5:179228855-179229127	H1-hESC	embryonic stem cell:	n/a	n/a
15	BCL3	chr5:179234933-179235488	A549	lung:	n/a	n/a
16	BCL3	chr5:179228161-179228577	GM12878	blood:	n/a	n/a
17	BCL3	chr5:179223068-179223847	A549	lung:	n/a	chr5:179223789-179223798
18	BCL3	chr5:179232078-179232689	A549	lung:	n/a	n/a
19	BCL3	chr5:179228740-179229314	A549	lung:	n/a	n/a
20	BCL3	chr5:179228673-179229260	A549	lung:	n/a	n/a
21	BCL3	chr5:179222480-179223805	GM12878	blood:	n/a	chr5:179223789-179223798
22	BCL3	chr5:179223079-179223543	GM12878	blood:	n/a	n/a
23	BCL3	chr5:179223054-179224057	A549	lung:	n/a	chr5:179223789-179223798 chr5:179223959-179223972
24	BCLAF1	chr5:179223062-179223634	GM12878	blood:	n/a	n/a
25	BCLAF1	chr5:179233728-179234172	GM12878	blood:	n/a	chr5:179233991-179234004 chr5:179234014-179234027 chr5:179234081-179234094
26	BCLAF1	chr5:179223083-179223663	GM12878	blood:	n/a	n/a
27	BCLAF1	chr5:179228760-179229168	GM12878	blood:	n/a	n/a
28	BCLAF1	chr5:179228755-179229209	GM12878	blood:	n/a	n/a
29	BCLAF1	chr5:179233740-179234111	K562	blood:	n/a	chr5:179233991-179234004 chr5:179234014-179234027 chr5:179234081-179234094
30	BHLHE40	chr5:179230689-179230840	K562	blood:	n/a	n/a
31	BHLHE40	chr5:179233806-179234094	K562	blood:	n/a	n/a
32	BHLHE40	chr5:179228930-179229106	K562	blood:	n/a	n/a
33	BHLHE40	chr5:179223155-179223492	HepG2	liver:	n/a	n/a
34	BHLHE40	chr5:179228840-179229271	GM12878	blood:	n/a	n/a
35	BHLHE40	chr5:179230771-179230856	GM12878	blood:	n/a	n/a
36	BHLHE40	chr5:179232749-179233129	GM12878	blood:	n/a	chr5:179232950-179232966 chr5:179233072-179233088
37	BHLHE40	chr5:179234344-179234532	K562	blood:	n/a	n/a
38	BHLHE40	chr5:179232708-179233154	K562	blood:	n/a	chr5:179232950-179232966 chr5:179233137-179233153 chr5:179233072-179233088
39	BHLHE40	chr5:179220884-179221019	GM12878	blood:	n/a	n/a
40	BHLHE40	chr5:179231154-179231372	K562	blood:	n/a	n/a
41	BHLHE40	chr5:179223073-179223566	GM12878	blood:	n/a	n/a
42	BRCA1	chr5:179233869-179233929	H1-hESC	embryonic stem cell:	n/a	n/a
43	BRCA1	chr5:179232207-179232304	Hela-S3	cervix:	n/a	n/a
44	BRCA1	chr5:179223323-179223490	GM12878	blood:	n/a	n/a
45	BRCA1	chr5:179234438-179234469	HepG2	liver:	n/a	n/a
46	BRCA1	chr5:179223685-179223709	HepG2	liver:	n/a	n/a
47	CBX3	chr5:179233666-179233988	K562	blood:	n/a	n/a
48	CBX3	chr5:179232908-179233298	K562	blood:	n/a	n/a
49	CBX3	chr5:179234238-179234861	K562	blood:	n/a	n/a
50	CCNT2	chr5:179232488-179234597	K562	blood:	n/a	chr5:179234237-179234246

(count:3054 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:179220820-179220870	U87	brain:	n/a
2	chr5:179223116-179223166	HCF	heart:	n/a
3	chr5:179234594-179234644	HepG2	liver:	n/a
4	chr5:179223116-179223166	HEEpiC	esophagus:	n/a
5	chr5:179220820-179220870	U87	brain:	n/a
6	chr5:179223116-179223166	HCF	heart:	n/a
7	chr5:179234594-179234644	HepG2	liver:	n/a
8	chr5:179223116-179223166	HEEpiC	esophagus:	n/a
9	chr5:179229353-179229403	CMK	blood:	n/a
10	chr5:179232533-179232583	SKMC	muscle:	n/a
11	chr5:179220274-179220324	SK-N-SH_RA	brain:	n/a
12	chr5:179220589-179220639	GM12878	blood:	n/a
13	chr5:179220274-179220324	IMR90	lung:	fetal
14	chr5:179225537-179225587	AG09309	skin:	n/a
15	chr5:179228859-179228909	HNPCEpiC	eye:	n/a
16	chr5:179235209-179235259	NHDF-neo	bronchial:	n/a
17	chr5:179234187-179234237	HCM	heart:	n/a
18	chr5:179225515-179225565	NT2-D1	testis:	n/a
19	chr5:179228859-179228909	BJ	skin:	n/a
20	chr5:179223116-179223166	Caco-2	colon:	n/a
21	chr5:179233122-179233172	HCT-116	colon:	n/a
22	chr5:179230866-179230916	NT2-D1	testis:	n/a
23	chr5:179220545-179220595	PrEC	prostate:	n/a
24	chr5:179232937-179232987	GM12891	blood:	n/a
25	chr5:179228635-179228685	AG09309	skin:	n/a
26	chr5:179227268-179227318	SK-N-MC	brain:	n/a
27	chr5:179234594-179234644	K562	blood:	n/a
28	chr5:179230002-179230052	NH-A	brain:	n/a
29	chr5:179230002-179230052	GM12892	blood:	n/a
30	chr5:179228489-179228539	GM12891	blood:	n/a
31	chr5:179224984-179225034	NHDF-neo	bronchial:	n/a
32	chr5:179231109-179231159	PFSK-1	brain:	n/a
33	chr5:179235209-179235259	H1-hESC	embryonic stem cell:	embryo
34	chr5:179233122-179233172	GM12892	blood:	n/a
35	chr5:179233137-179233187	ovcar-3	ovarian:	n/a
36	chr5:179227268-179227318	NHDF-neo	bronchial:	n/a
37	chr5:179230866-179230916	AG04449	skin:	fetal
38	chr5:179226172-179226222	HCF	heart:	n/a
39	chr5:179233122-179233172	PANC-1	pancreas:	n/a
40	chr5:179230002-179230052	SK-N-MC	brain:	n/a
41	chr5:179220274-179220324	HRE	kidney:	n/a
42	chr5:179226753-179226803	HEK293	kidney:	embryo
43	chr5:179234439-179234489	AG04449	skin:	fetal
44	chr5:179228635-179228685	GM06990	blood:	n/a
45	chr5:179224751-179224801	HEK293	kidney:	embryo
46	chr5:179230709-179230759	NB4	blood:	n/a
47	chr5:179232937-179232987	NHBE	bronchial:	n/a
48	chr5:179220820-179220870	RPTEC	kidney:	n/a
49	chr5:179228635-179228685	HPAEpiC	pulmonary alveolar:	n/a
50	chr5:179227268-179227318	AG10803	skin:	n/a

(count:58 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr5:179158622..179161306-chr5:179229255..179232070,3	MCF-7	breast:
2	chr5:179227831..179231343-chr5:179333679..179336075,3	MCF-7	breast:
3	chr5:179189767..179190816-chr5:179222590..179224521,15	MCF-7	breast:
4	chr5:179213701..179215933-chr5:179218776..179220680,2	K562	blood:
5	chr5:179049195..179052432-chr5:179232038..179235083,3	K562	blood:
6	chr5:179126009..179127718-chr5:179220885..179222493,2	K562	blood:
7	chr5:179049356..179051389-chr5:179221894..179224407,2	MCF-7	breast:
8	chr5:179123960..179129281-chr5:179231995..179235216,8	K562	blood:
9	chr5:179049178..179050682-chr5:179227339..179229062,2	MCF-7	breast:
10	chr5:179205387..179207447-chr5:179218747..179220491,2	K562	blood:
11	chr5:179194648..179196545-chr5:179230223..179233407,4	K562	blood:
12	chr5:179158130..179161320-chr5:179231546..179235366,4	K562	blood:
13	chr5:179204721..179205577-chr5:179222799..179223648,2	MCF-7	breast:
14	chr5:179103716..179105834-chr5:179232132..179234075,2	MCF-7	breast:
15	chr5:179231022..179234564-chr5:179332456..179334964,4	MCF-7	breast:
16	chr5:179223013..179224914-chr5:180672992..180675408,2	MCF-7	breast:
17	chr5:179231951..179234998-chr5:179332268..179335922,5	MCF-7	breast:
18	chr5:179049028..179050758-chr5:179230503..179232044,2	K562	blood:
19	chr5:179232651..179234632-chr5:179498072..179500275,2	MCF-7	breast:
20	chr5:179124990..179127718-chr5:179220717..179222385,2	K562	blood:
21	chr5:179123773..179127716-chr5:179220848..179225521,8	MCF-7	breast:
22	chr5:179221892..179226661-chr5:179285311..179287197,6	MCF-7	breast:
23	chr20:52209726..52211321-chr5:179232492..179235462,2	MCF-7	breast:
24	chr5:179048548..179052839-chr5:179221765..179224480,6	MCF-7	breast:
25	chr5:179049042..179051273-chr5:179225764..179228331,2	MCF-7	breast:
26	chr5:179189775..179190581-chr5:179231187..179232028,2	K562	blood:
27	chr5:179159678..179161359-chr5:179228559..179231556,2	MCF-7	breast:
28	chr5:179123572..179126776-chr5:179221240..179224069,3	MCF-7	breast:
29	chr5:179197599..179200377-chr5:179228822..179231191,2	MCF-7	breast:
30	chr5:179164536..179166178-chr5:179223167..179224801,2	MCF-7	breast:
31	chr5:179158179..179161014-chr5:179220671..179223680,5	MCF-7	breast:
32	chr5:179233344..179233858-chr6:36953828..36954636,2	Hela-S3	cervix:
33	chr5:179205957..179207615-chr5:179218348..179219920,2	MCF-7	breast:
34	chr5:179104067..179106595-chr5:179220718..179223236,3	MCF-7	breast:
35	chr5:179232749..179234437-chr5:179284019..179286391,2	K562	blood:
36	chr3:48487800..48488607-chr5:179233338..179233841,2	Hela-S3	cervix:
37	chr5:179227703..179229883-chr5:179285735..179289127,3	K562	blood:
38	chr5:179207715..179210288-chr5:179217795..179219761,2	MCF-7	breast:
39	chr5:179048743..179051829-chr5:179229515..179233744,4	MCF-7	breast:
40	chr5:179229039..179235504-chr5:179284286..179287391,9	MCF-7	breast:
41	chr5:179192680..179196164-chr5:179217971..179221244,3	MCF-7	breast:
42	chr5:179125840..179127525-chr5:179233336..179235588,2	MCF-7	breast:
43	chr5:179197877..179198480-chr5:179223009..179223771,2	MCF-7	breast:
44	chr22:43010882..43011449-chr5:179222925..179223848,2	HCT-116	colon:
45	chr5:179227703..179229883-chr5:179285735..179288229,2	K562	blood:
46	chr5:179125105..179126720-chr5:179232704..179234457,2	MCF-7	breast:
47	chr5:179104088..179107429-chr5:179222108..179224529,3	MCF-7	breast:
48	chr5:179125163..179127622-chr5:179228110..179231035,2	K562	blood:
49	chr5:179234572..179235304-chr5:179245240..179246114,2	HCT-116	colon:
50	chr5:179221198..179223904-chr5:179283563..179286738,3	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LTC4S-2	chr5:179233398-179233591	NONHSAT105629
2	lnc-C5orf45-4	chr5:179229952-179230030	NONHSAT105628
3	lnc-C5orf45-4	chr5:179233193-179233305	NONHSAT105627
4	lnc-LTC4S-1	chr5:179218765-179220536	NONHSAT105621
5	lnc-C5orf45-4	chr5:179231941-179232385	NONHSAT105628
6	lnc-C5orf45-4	chr5:179229313-179230030	NONHSAT105627
7	lnc-LTC4S-2	chr5:179234324-179235427	NONHSAT105630

miRNA name	Chromosome Location	mirBase accession
hsa-miR-1229-3p	chr5:179225278-179225300	MIMAT0005584
hsa-miR-1229-5p	chr5:179225323-179225346	MIMAT0022942

No data

Variant related genes	Relation type
LTC4S	TF binding region
SQSTM1	TF binding region
MGAT4B	TF binding region
MIR1229	TF binding region
LTC4S	CpG island
SQSTM1	CpG island
MGAT4B	CpG island
MIR1229	CpG island
ENSG00000171940	chromatin interactions
ENSG00000161021	chromatin interactions
ENSG00000127022	chromatin interactions
ENSG00000233937	chromatin interactions
ENSG00000245317	chromatin interactions
ENSG00000169045	chromatin interactions
ENSG00000225051	chromatin interactions
ENSG00000164053	chromatin interactions
ENSG00000244380	chromatin interactions
ENSG00000270022	chromatin interactions
ENSG00000137409	chromatin interactions
ENSG00000204628	chromatin interactions
ENSG00000197226	chromatin interactions
ENSG00000161010	chromatin interactions
ENSG00000113269	chromatin interactions
ENSG00000100227	chromatin interactions
ENSG00000161011	chromatin interactions
PSMC5	Mature miRNA region
PRKRIP1	Mature miRNA region
CTNNBL1	Mature miRNA region
C2orf44	Mature miRNA region
SCAMP5	Mature miRNA region
RPL7A	Mature miRNA region
INO80D	Mature miRNA region
HYPK	Mature miRNA region
NAA50	Mature miRNA region
BAP1	Mature miRNA region
OPA3	Mature miRNA region
ITGA5	Mature miRNA region
SORBS3	Mature miRNA region
SUPT5H	Mature miRNA region
ERC1	Mature miRNA region
POLR2D	Mature miRNA region
AIF1L	Mature miRNA region
PHC1	Mature miRNA region
CTNND1	Mature miRNA region
PHGDH	Mature miRNA region
KPNB1	Mature miRNA region
HNRNPA3	Mature miRNA region
KIF24	Mature miRNA region
ZNF264	Mature miRNA region
RPGRIP1L	Mature miRNA region
REXO2	Mature miRNA region
SLC16A13	Mature miRNA region
CDC42EP4	Mature miRNA region
ZMYM2	Mature miRNA region
GAPDH	Mature miRNA region
TARDBP	Mature miRNA region
YWHAZ	Mature miRNA region
PHF8	Mature miRNA region
MED19	Mature miRNA region
HNRNPD	Mature miRNA region
C19orf10	Mature miRNA region
ALS2	Mature miRNA region
INTS10	Mature miRNA region
HIST4H4	Mature miRNA region
FMNL2	Mature miRNA region
TNRC6B	Mature miRNA region
MDK	Mature miRNA region
MPP2	Mature miRNA region
NUP210	Mature miRNA region
CHCHD2	Mature miRNA region
SLC39A7	Mature miRNA region
HNRNPUL1	Mature miRNA region
SRP72	Mature miRNA region
IGF2BP1	Mature miRNA region
RPS15	Mature miRNA region
CLSTN3	Mature miRNA region
AHCYL1	Mature miRNA region
MAD2L2	Mature miRNA region
DCTD	Mature miRNA region
SRCAP	Mature miRNA region
GTF2I	Mature miRNA region
GPI	Mature miRNA region
DCAF7	Mature miRNA region
FOXK1	Mature miRNA region
CSDE1	Mature miRNA region
NME2	Mature miRNA region
NAPEPLD	Mature miRNA region
CDKN1A	Mature miRNA region
AP2M1	Mature miRNA region
SAFB	Mature miRNA region
PTBP3	Mature miRNA region
CTCF	Mature miRNA region
TRRAP	Mature miRNA region
DAG1	Mature miRNA region
MAPKAPK2	Mature miRNA region
SCD	Mature miRNA region
LDOC1L	Mature miRNA region
ABCC5	Mature miRNA region
CEP350	Mature miRNA region
COIL	Mature miRNA region
TIA1	Mature miRNA region
TUBA1B	Mature miRNA region
CPT1B	Mature miRNA region
RUVBL2	Mature miRNA region
PITPNB	Mature miRNA region
ZNF687	Mature miRNA region
CRISP3	Mature miRNA region
NXPE3	Mature miRNA region
C9orf114	Mature miRNA region
CEP55	Mature miRNA region
ARL6IP1	Mature miRNA region
LRBA	Mature miRNA region
SAE1	Mature miRNA region
PRDX4	Mature miRNA region
EIF4G2	Mature miRNA region
SFPQ	Mature miRNA region
HADHB	Mature miRNA region
ACLY	Mature miRNA region
ACOT7	Mature miRNA region
RNF40	Mature miRNA region
DDX23	Mature miRNA region
SNX12	Mature miRNA region
ATP5A1	Mature miRNA region
CTDNEP1	Mature miRNA region
HNRNPA1	Mature miRNA region
EEF2	Mature miRNA region
NF2	Mature miRNA region
EPB41L2	Mature miRNA region
ADPRHL2	Mature miRNA region
PHRF1	Mature miRNA region
PPP4C	Mature miRNA region
TUBG1	Mature miRNA region
PTPRF	Mature miRNA region
VWA8	Mature miRNA region
PPP6R1	Mature miRNA region
LRIT1	Mature miRNA region
OTUD7B	Mature miRNA region
NEU3	Mature miRNA region
KRT28	Mature miRNA region
PBRM1	Mature miRNA region
KCTD15	Mature miRNA region
FEN1	Mature miRNA region
BET1L	Mature miRNA region
EML1	Mature miRNA region
HIST1H3G	Mature miRNA region
FOXP1	Mature miRNA region
CDIPT	Mature miRNA region
BRD2	Mature miRNA region
RPL3	Mature miRNA region
TSC22D3	Mature miRNA region
KMT2D	Mature miRNA region
PAK4	Mature miRNA region
CPNE1	Mature miRNA region
STAT5B	Mature miRNA region
KDM5C	Mature miRNA region
SIK2	Mature miRNA region
TUSC3	Mature miRNA region
CEP152	Mature miRNA region
ZDHHC7	Mature miRNA region

Extended variants
information (count: 838 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:838 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376380164	chr5:179218837-179218838	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
2	rs540449644	chr5:179218841-179218842	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs55654737	chr5:179218842-179218843	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs376863781	chr5:179218854-179218855	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs527250658	chr5:179218855-179218856	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs551015860	chr5:179218868-179218869	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
7	rs562973804	chr5:179218876-179218877	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
8	rs530088896	chr5:179218877-179218878	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs548619686	chr5:179218924-179218925	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs547371283	chr5:179218939-179218940	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs570421281	chr5:179218942-179218943	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs576436221	chr5:179218978-179218979	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs79329237	chr5:179218994-179218995	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs141623722	chr5:179219009-179219010	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs549643382	chr5:179219019-179219020	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs147221320	chr5:179219056-179219057	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
17	rs570241168	chr5:179219125-179219126	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
18	rs537648373	chr5:179219141-179219142	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
19	rs555809532	chr5:179219203-179219204	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
20	rs574207694	chr5:179219207-179219208	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
21	rs536102733	chr5:179219218-179219219	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
22	rs373593066	chr5:179219220-179219221	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
23	rs369628979	chr5:179219232-179219233	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
24	rs140560648	chr5:179219235-179219236	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
25	rs553378595	chr5:179219266-179219267	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
26	rs7706693	chr5:179219357-179219358	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
27	rs573200214	chr5:179219400-179219401	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
28	rs540964088	chr5:179219413-179219414	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
29	rs568716460	chr5:179219426-179219427	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
30	rs183975298	chr5:179219464-179219465	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
31	rs144435441	chr5:179219479-179219480	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
32	rs376100683	chr5:179219499-179219500	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
33	rs147395798	chr5:179219500-179219501	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs188921067	chr5:179219606-179219607	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
35	rs139140096	chr5:179219610-179219611	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
36	rs542223683	chr5:179219677-179219678	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
37	rs560510373	chr5:179219727-179219728	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
38	rs193071638	chr5:179219784-179219785	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
39	rs183050031	chr5:179219797-179219798	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
40	rs570674842	chr5:179219800-179219801	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
41	rs558155480	chr5:179219804-179219805	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
42	rs150017306	chr5:179219818-179219819	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
43	rs549597664	chr5:179219846-179219847	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
44	rs567792811	chr5:179219894-179219895	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
45	rs535221826	chr5:179219970-179219971	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
46	rs578009975	chr5:179219976-179219977	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
47	rs553345764	chr5:179219985-179219986	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
48	rs565632104	chr5:179219989-179219990	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
49	rs80086381	chr5:179219990-179219991	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
50	rs559176466	chr5:179219995-179219996	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Autism	20808228	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1810 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179202000-179221800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr5:179203400-179221600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:179203600-179219600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr5:179203600-179220400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:179203600-179222000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:179204000-179221200	Weak transcription	Small Intestine	intestine
7	chr5:179205200-179220600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr5:179205200-179221800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr5:179206000-179220200	Weak transcription	Ovary	ovary
10	chr5:179206400-179219200	Weak transcription	Gastric	stomach
11	chr5:179207000-179220200	Weak transcription	GM12878-XiMat	blood
12	chr5:179207200-179220600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr5:179207400-179219400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr5:179207400-179221000	Weak transcription	Brain Substantia Nigra	brain
15	chr5:179207600-179219200	Weak transcription	Colonic Mucosa	Colon
16	chr5:179207600-179219400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:179207600-179219400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr5:179207600-179220000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr5:179207600-179220200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr5:179207600-179220200	Weak transcription	Duodenum Mucosa	Duodenum
21	chr5:179207600-179220200	Weak transcription	Pancreas	Pancrea
22	chr5:179207600-179220600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr5:179207600-179220800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr5:179207600-179221200	Weak transcription	Fetal Intestine Large	intestine
25	chr5:179207600-179222200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:179207600-179222600	Weak transcription	Aorta	Aorta
27	chr5:179207800-179219200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr5:179207800-179220200	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr5:179207800-179220200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr5:179207800-179220400	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr5:179207800-179220400	Weak transcription	Brain Angular Gyrus	brain
32	chr5:179207800-179220400	Weak transcription	HSMM	muscle
33	chr5:179207800-179220600	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr5:179207800-179222200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr5:179208000-179219400	Weak transcription	Primary B cells from cord blood	blood
36	chr5:179208000-179220200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr5:179208000-179220200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr5:179208000-179220400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr5:179208000-179220600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr5:179209000-179220400	Weak transcription	Brain Anterior Caudate	brain
41	chr5:179209000-179220800	Weak transcription	Dnd41	blood
42	chr5:179209200-179220000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr5:179209400-179222200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr5:179209600-179219000	Weak transcription	Spleen	Spleen
45	chr5:179209600-179219600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr5:179209600-179220400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr5:179209600-179221600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr5:179209800-179219000	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr5:179209800-179220200	Weak transcription	Primary T cells from cord blood	blood
50	chr5:179210200-179219400	Weak transcription	Brain Hippocampus Middle	brain

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