Variant report

Variant	esv3377948
Chromosome Location	chr17:37823251-37825999
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:466)
CpG islands
(count:672)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:466 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr17:37824818-37825041	K562	blood:	n/a	n/a
2	ATF3	chr17:37823207-37823417	K562	blood:	n/a	chr17:37823321-37823335
3	ATF3	chr17:37823113-37823503	K562	blood:	n/a	chr17:37823321-37823335
4	BACH1	chr17:37824819-37825041	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCL3	chr17:37824630-37825199	A549	lung:	n/a	chr17:37824658-37824667
6	BCL3	chr17:37824638-37825120	A549	lung:	n/a	chr17:37824658-37824667
7	BCLAF1	chr17:37824700-37825047	GM12878	blood:	n/a	n/a
8	BHLHE40	chr17:37823768-37824112	K562	blood:	n/a	chr17:37823896-37823912
9	BHLHE40	chr17:37824519-37825025	K562	blood:	n/a	n/a
10	BHLHE40	chr17:37824781-37824952	GM12878	blood:	n/a	n/a
11	BHLHE40	chr17:37823216-37823409	K562	blood:	n/a	n/a
12	BRCA1	chr17:37824733-37824857	HepG2	liver:	n/a	n/a
13	CBX3	chr17:37824367-37825068	K562	blood:	n/a	n/a
14	CBX3	chr17:37823704-37824096	K562	blood:	n/a	n/a
15	CBX3	chr17:37823024-37823482	K562	blood:	n/a	n/a
16	CBX3	chr17:37824670-37825046	K562	blood:	n/a	n/a
17	CCNT2	chr17:37823497-37824187	K562	blood:	n/a	chr17:37824123-37824132 chr17:37823776-37823785
18	CCNT2	chr17:37824512-37825028	K562	blood:	n/a	n/a
19	CEBPB	chr17:37824718-37824954	K562	blood:	n/a	n/a
20	CEBPB	chr17:37824786-37824952	HepG2	liver:	n/a	n/a
21	CEBPB	chr17:37824792-37824908	H1-hESC	embryonic stem cell:	n/a	n/a
22	CEBPD	chr17:37823653-37824269	K562	blood:	n/a	n/a
23	CHD1	chr17:37824659-37825022	H1-hESC	embryonic stem cell:	n/a	n/a
24	CHD2	chr17:37824802-37824816	HepG2	liver:	n/a	n/a
25	CREB1	chr17:37824515-37825047	H1-hESC	embryonic stem cell:	n/a	n/a
26	CREB1	chr17:37824660-37824981	A549	lung:	n/a	n/a
27	CTBP2	chr17:37824655-37825219	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr17:37824780-37824930	GM12867	blood:	n/a	n/a
29	CTCF	chr17:37824800-37824950	HCPEpiC	choroid plexus:	n/a	n/a
30	CTCF	chr17:37824780-37824930	GM12868	blood:	n/a	n/a
31	CTCF	chr17:37824800-37824950	HMF	breast:	n/a	n/a
32	CTCF	chr17:37824740-37824992	Pancreas_OC	pancreas:	n/a	n/a
33	CTCF	chr17:37824780-37824930	HUVEC	blood vessel:	n/a	n/a
34	CTCF	chr17:37824760-37824910	GM12872	blood:	n/a	n/a
35	CTCF	chr17:37824707-37824995	A549	lung:	n/a	n/a
36	CTCF	chr17:37824766-37824977	HUVEC	blood vessel:	n/a	n/a
37	CTCF	chr17:37824767-37824971	LNCaP	prostate:	n/a	n/a
38	CTCF	chr17:37824707-37825002	K562	blood:	n/a	n/a
39	CTCF	chr17:37825180-37825330	BE2_C	brain:	n/a	n/a
40	CTCF	chr17:37824820-37824970	GM06990	blood:	n/a	n/a
41	CTCF	chr17:37824820-37824970	A549	lung:	n/a	n/a
42	CTCF	chr17:37824740-37824890	GM06990	blood:	n/a	n/a
43	CTCF	chr17:37824800-37824950	HFF	foreskin:	n/a	n/a
44	CTCF	chr17:37824820-37824970	GM12864	blood:	n/a	n/a
45	CTCF	chr17:37824820-37824970	K562	blood:	n/a	n/a
46	CTCF	chr17:37824497-37824634	GM19239	blood:	n/a	n/a
47	CTCF	chr17:37824820-37824924	MCF-7	breast:	n/a	n/a
48	CTCF	chr17:37824800-37824950	HBMEC	blood vessel:	n/a	n/a
49	CTCF	chr17:37824761-37824973	GM20000	blood:	n/a	n/a
50	CTCF	chr17:37824160-37824310	GM12864	blood:	n/a	n/a

(count:672 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:37824238-37824288	ovcar-3	ovarian:	n/a
2	chr17:37824238-37824288	ovcar-3	ovarian:	n/a
3	chr17:37824526-37824576	HPAEpiC	pulmonary alveolar:	n/a
4	chr17:37825027-37825077	SK-N-SH	brain:	n/a
5	chr17:37824233-37824283	PFSK-1	brain:	n/a
6	chr17:37824529-37824579	Hela-S3	cervix:	n/a
7	chr17:37824988-37825038	H1-hESC	embryonic stem cell:	embryo
8	chr17:37824529-37824579	NH-A	brain:	n/a
9	chr17:37824461-37824511	Caco-2	colon:	n/a
10	chr17:37823631-37823681	HL-60	blood:	n/a
11	chr17:37824468-37824518	Jurkat	blood:	n/a
12	chr17:37824461-37824511	K562	blood:	n/a
13	chr17:37824238-37824288	GM06990	blood:	n/a
14	chr17:37824468-37824518	GM19239	blood:	n/a
15	chr17:37824825-37824875	AG09319	gingival:	n/a
16	chr17:37825027-37825077	H1-hESC	embryonic stem cell:	embryo
17	chr17:37824526-37824576	Caco-2	colon:	n/a
18	chr17:37824233-37824283	AG10803	skin:	n/a
19	chr17:37824526-37824576	GM12878	blood:	n/a
20	chr17:37823905-37823955	HL-60	blood:	n/a
21	chr17:37824526-37824576	Jurkat	blood:	n/a
22	chr17:37824233-37824283	GM12891	blood:	n/a
23	chr17:37824988-37825038	NT2-D1	testis:	n/a
24	chr17:37824526-37824576	CMK	blood:	n/a
25	chr17:37824468-37824518	PANC-1	pancreas:	n/a
26	chr17:37825027-37825077	LNCaP	prostate:	n/a
27	chr17:37824529-37824579	MCF-7	breast:	n/a
28	chr17:37824988-37825038	Caco-2	colon:	n/a
29	chr17:37824529-37824579	GM12892	blood:	n/a
30	chr17:37824526-37824576	SK-N-SH_RA	brain:	n/a
31	chr17:37824529-37824579	SKMC	muscle:	n/a
32	chr17:37823905-37823955	NH-A	brain:	n/a
33	chr17:37825027-37825077	ovcar-3	ovarian:	n/a
34	chr17:37824526-37824576	GM12891	blood:	n/a
35	chr17:37823905-37823955	NHBE	bronchial:	n/a
36	chr17:37824233-37824283	T-47D	breast:	n/a
37	chr17:37824529-37824579	AG09309	skin:	n/a
38	chr17:37824526-37824576	HCF	heart:	n/a
39	chr17:37824988-37825038	GM12892	blood:	n/a
40	chr17:37824526-37824576	ECC-1	luminal epithelium:	n/a
41	chr17:37824461-37824511	HCPEpiC	choroid plexus:	n/a
42	chr17:37823905-37823955	AG10803	skin:	n/a
43	chr17:37824461-37824511	HL-60	blood:	n/a
44	chr17:37824233-37824283	SK-N-SH	brain:	n/a
45	chr17:37824238-37824288	HCPEpiC	choroid plexus:	n/a
46	chr17:37824468-37824518	RPTEC	kidney:	n/a
47	chr17:37824988-37825038	ProgFib	skin:	n/a
48	chr17:37824988-37825038	Hela-S3	cervix:	n/a
49	chr17:37824526-37824576	GM12892	blood:	n/a
50	chr17:37824238-37824288	SK-N-MC	brain:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:37822303..37824126-chr17:37856298..37859081,2	K562	blood:
2	chr17:37702516..37704166-chr17:37823518..37825070,2	K562	blood:
3	chr17:37775807..37781695-chr17:37822673..37828377,10	K562	blood:
4	chr17:37777756..37783081-chr17:37819129..37825010,9	K562	blood:
5	chr17:37820932..37826284-chr17:37838504..37843351,7	K562	blood:
6	chr17:37772115..37773801-chr17:37825160..37827936,2	K562	blood:
7	chr17:37820269..37822636-chr17:37824547..37827418,2	MCF-7	breast:
8	chr17:37821804..37826261-chr17:37885454..37888153,4	K562	blood:
9	chr17:37825246..37828511-chr17:37865302..37868982,3	K562	blood:
10	chr17:37809503..37812375-chr17:37822536..37826640,4	K562	blood:
11	chr17:37791520..37796368-chr17:37822308..37826994,8	K562	blood:
12	chr17:37824914..37826916-chr17:37844097..37845761,2	K562	blood:
13	chr17:37778895..37779929-chr17:37824753..37825581,4	K562	blood:

No data

Variant related genes	Relation type
PNMT	TF binding region
PNMT	CpG island
ENSG00000161395	chromatin interactions
ENSG00000167258	chromatin interactions
ENSG00000131771	chromatin interactions
ENSG00000141736	chromatin interactions
ENSG00000141741	chromatin interactions
ENSG00000214546	chromatin interactions
ENSG00000173991	chromatin interactions
ENSG00000131748	chromatin interactions

Extended variants
information (count: 109 )
Associated
traits (count: 128 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548081211	chr17:37823290-37823291	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs569660642	chr17:37823338-37823339	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs372919628	chr17:37823363-37823364	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs552377351	chr17:37823365-37823366	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs570829460	chr17:37823548-37823549	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs1107794	chr17:37823600-37823601	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs553054280	chr17:37823640-37823641	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs2934965	chr17:37823655-37823656	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs535900756	chr17:37823695-37823696	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs188485997	chr17:37823727-37823728	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs576039966	chr17:37823751-37823752	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs2941523	chr17:37823761-37823762	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs537002114	chr17:37823769-37823770	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs183371945	chr17:37823838-37823839	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs564721121	chr17:37823856-37823857	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs551077302	chr17:37823881-37823882	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs576829617	chr17:37823886-37823887	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs72554032	chr17:37823891-37823892	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs559039101	chr17:37823910-37823911	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs544632392	chr17:37823926-37823927	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs58867445	chr17:37823963-37823964	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs536332301	chr17:37823965-37823966	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs529636697	chr17:37823993-37823994	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs547818396	chr17:37824002-37824003	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs140192449	chr17:37824027-37824028	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs368629361	chr17:37824053-37824054	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs538957535	chr17:37824057-37824058	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs2934966	chr17:37824138-37824139	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs552052540	chr17:37824164-37824165	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs572698887	chr17:37824281-37824282	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs570638610	chr17:37824321-37824322	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs60599834	chr17:37824337-37824338	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs3764351	chr17:37824339-37824340	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs568612217	chr17:37824398-37824399	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs113308907	chr17:37824433-37824434	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs56873336	chr17:37824500-37824501	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs557417977	chr17:37824543-37824544	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs876493	chr17:37824545-37824546	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	mRNA abundance
39	rs71147369	chr17:37824594-37824595	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs398030821	chr17:37824595-37824596	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs393502	chr17:37824632-37824633	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs540138692	chr17:37824700-37824701	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs11569781	chr17:37824754-37824755	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs369267376	chr17:37824767-37824768	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs377726208	chr17:37824802-37824803	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs371590499	chr17:37824838-37824839	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs573387485	chr17:37824842-37824843	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs62639962	chr17:37824851-37824852	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs9903907	chr17:37824881-37824882	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs186960939	chr17:37824884-37824885	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:128)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Melanoma	18172304	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell lymphomas	19863542	CNVD
Cancer	16751803	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17157792	CNVD
Bladder cancer	19088036	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Meningioma	19431122	CNVD
Neurocytoma	17123091	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	24379144	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	17850661	CNVD
Primary lung adenocarcinoma	16799635	CNVD
HIV/AIDS	18848619	CNVD
Rheumatoid arthritis	19220326	CNVD
Rheumatoid arthritis	18848619	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	18848619	CNVD
Type 1 diabetes	19220326	CNVD
HIV/AIDS	17330138	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	19955444	CNVD
Schizophrenia	19955444	CNVD
Acute monocytic leukemia	16498392	CNVD
Breast cancer	20409316	CNVD
Myelodysplastic syndrome	18663149	CNVD
Breast cancer	17457667	CNVD
Breast cancer	16951389	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22048815	CNVD
Breast cancer	17603634	CNVD
Follicular lymphoma	20505157	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	20953835	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Sezary syndrome	18413736	CNVD
Cancer	20164920	CNVD
Urothelial carcinoma	21177765	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Disease	22962312	CNVD
Mental retardation	20152051	CNVD
Mental retardation	19951919	CNVD
Mental retardation	22817714	CNVD
Mental retardation	21956041	CNVD
Brain cancer	19584924	CNVD
Glioblastoma multiforme	22286061	CNVD
Schizophrenia	21399695	CNVD
Non-syndromic sensorineural hearing loss	19165922	CNVD
Prader-willi syndrome	20588305	CNVD
17q21.31 microdeletion syndrome	16940994	CNVD
Non-syndromic sensorineural hearing loss	21084979	CNVD
17q21.31 microdeletion syndrome	22283845	CNVD
Intellectual disability	22194194	CNVD
17q21.31 microdeletion syndrome	20606400	CNVD
17q21.31 microdeletion syndrome	18628315	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
TAR Syndrome	17847015	CNVD
Neuroblastoma	18923191	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:406 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37795000-37823800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr17:37817600-37823400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr17:37818400-37823600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr17:37819200-37825200	Enhancers	Liver	Liver
5	chr17:37819400-37823600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr17:37819600-37823400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr17:37819600-37823800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr17:37819600-37824200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr17:37820400-37825200	Enhancers	Brain Angular Gyrus	brain
10	chr17:37820600-37823400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr17:37820600-37824000	Enhancers	HSMMtube	muscle
12	chr17:37820800-37823400	Active TSS	Left Ventricle	heart
13	chr17:37821000-37823600	Enhancers	Fetal Brain Male	brain
14	chr17:37821000-37823800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr17:37821000-37824400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
16	chr17:37821200-37823400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr17:37821200-37824600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
18	chr17:37821600-37823600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
19	chr17:37821600-37824000	Bivalent Enhancer	Brain Germinal Matrix	brain
20	chr17:37821600-37824600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
21	chr17:37821800-37823400	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr17:37821800-37823400	Bivalent Enhancer	HepG2	liver
23	chr17:37821800-37823600	Enhancers	Placenta Amnion	Placenta Amnion
24	chr17:37821800-37824400	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr17:37821800-37825200	Active TSS	Psoas Muscle	Psoas
26	chr17:37822000-37823600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
27	chr17:37822000-37823600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
28	chr17:37822000-37823800	Enhancers	Brain Substantia Nigra	brain
29	chr17:37822000-37824400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
30	chr17:37822000-37824600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr17:37822000-37825200	Enhancers	Lung	lung
32	chr17:37822200-37823400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr17:37822200-37823600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
34	chr17:37822200-37823600	Bivalent Enhancer	Brain Cingulate Gyrus	brain
35	chr17:37822200-37823800	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
36	chr17:37822200-37823800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr17:37822200-37823800	Bivalent Enhancer	Placenta	Placenta
38	chr17:37822400-37823400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr17:37822400-37823400	Bivalent Enhancer	Fetal Intestine Large	intestine
40	chr17:37822400-37823600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr17:37822400-37823800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr17:37822400-37824000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr17:37822600-37823600	Flanking Active TSS	Fetal Heart	heart
44	chr17:37822600-37823800	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
45	chr17:37822600-37823800	Bivalent Enhancer	Fetal Lung	lung
46	chr17:37822600-37823800	Enhancers	Hela-S3	cervix
47	chr17:37822600-37824000	Bivalent Enhancer	Fetal Intestine Small	intestine
48	chr17:37822600-37824000	Enhancers	Ovary	ovary
49	chr17:37822800-37823800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr17:37822800-37824200	Enhancers	Gastric	stomach

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