Variant report

Variant	esv3404854
Chromosome Location	chr3:50305373-50307921
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:224)
CpG islands
(count:306)
Chromatin interactive
region (count:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:224 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr3:50306231-50306742	A549	lung:	n/a	n/a
2	BCL3	chr3:50305608-50306158	GM12878	blood:	n/a	n/a
3	BCL3	chr3:50305601-50306151	GM12878	blood:	n/a	n/a
4	BRCA1	chr3:50306139-50306689	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr3:50305908-50306789	Hela-S3	cervix:	n/a	n/a
6	CEBPD	chr3:50306299-50306802	HepG2	liver:	n/a	n/a
7	CHD2	chr3:50306179-50306787	Hela-S3	cervix:	n/a	n/a
8	CHD2	chr3:50306151-50306351	HepG2	liver:	n/a	n/a
9	CHD2	chr3:50306675-50306735	HepG2	liver:	n/a	n/a
10	CHD2	chr3:50307105-50307190	HepG2	liver:	n/a	n/a
11	CHD2	chr3:50307206-50307384	Hela-S3	cervix:	n/a	n/a
12	CREB1	chr3:50306296-50306634	A549	lung:	n/a	n/a
13	CREB1	chr3:50306155-50306766	ECC-1	luminal epithelium:	n/a	n/a
14	CTCF	chr3:50306371-50306432	MCF-7	breast:	n/a	n/a
15	CTCF	chr3:50306540-50306690	Caco-2	colon:	n/a	n/a
16	E2F4	chr3:50306545-50306596	MCF10A-Er-Src	breast:	n/a	n/a
17	EGR1	chr3:50306043-50306738	ECC-1	luminal epithelium:	n/a	n/a
18	EGR1	chr3:50306225-50306744	MCF-7	breast:	n/a	n/a
19	EGR1	chr3:50306080-50306713	HCT-116	colon:	n/a	n/a
20	EGR1	chr3:50306103-50306724	MCF-7	breast:	n/a	n/a
21	EGR1	chr3:50305985-50306967	HCT-116	colon:	n/a	n/a
22	EGR1	chr3:50306225-50306738	ECC-1	luminal epithelium:	n/a	n/a
23	ELF1	chr3:50306186-50306729	MCF-7	breast:	n/a	n/a
24	ELK1	chr3:50306250-50306665	Hela-S3	cervix:	n/a	n/a
25	ELK4	chr3:50306175-50306701	Hela-S3	cervix:	n/a	n/a
26	EP300	chr3:50306246-50306636	Hela-S3	cervix:	n/a	n/a
27	EP300	chr3:50305984-50306942	ECC-1	luminal epithelium:	n/a	n/a
28	EP300	chr3:50306945-50307081	HepG2	liver:	n/a	n/a
29	EP300	chr3:50304622-50305414	ECC-1	luminal epithelium:	n/a	chr3:50305340-50305353 chr3:50304638-50304654
30	EP300	chr3:50306109-50306742	ECC-1	luminal epithelium:	n/a	n/a
31	EP300	chr3:50306212-50306782	HepG2	liver:	n/a	n/a
32	EP300	chr3:50306399-50306635	HepG2	liver:	n/a	n/a
33	EP300	chr3:50306064-50306707	MCF-7	breast:	n/a	n/a
34	EP300	chr3:50306048-50306690	MCF-7	breast:	n/a	n/a
35	ESR1	chr3:50306062-50306704	ECC-1	luminal epithelium:	n/a	chr3:50306394-50306409
36	ESR1	chr3:50306095-50306729	ECC-1	luminal epithelium:	n/a	chr3:50306394-50306409
37	ESR1	chr3:50306155-50306620	ECC-1	luminal epithelium:	n/a	chr3:50306394-50306409
38	ESR1	chr3:50306235-50306637	ECC-1	luminal epithelium:	n/a	chr3:50306394-50306409
39	ESR1	chr3:50306055-50306745	ECC-1	luminal epithelium:	n/a	chr3:50306394-50306409
40	FOS	chr3:50307373-50307681	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr3:50306240-50306558	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr3:50307356-50307671	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr3:50306365-50306527	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr3:50307361-50307687	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr3:50306245-50306528	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr3:50307356-50307673	MCF10A-Er-Src	breast:	n/a	n/a
47	FOSL2	chr3:50307272-50307749	A549	lung:	n/a	n/a
48	FOSL2	chr3:50307227-50307837	SK-N-SH	brain:	n/a	n/a
49	FOSL2	chr3:50306147-50306724	MCF-7	breast:	n/a	n/a
50	FOXA2	chr3:50306184-50306674	HepG2	liver:	n/a	n/a

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:50307037-50307087	HRPEpiC	eye:	n/a
2	chr3:50307037-50307087	HRPEpiC	eye:	n/a
3	chr3:50306107-50306157	AoSMC	blood vessel:	n/a
4	chr3:50306456-50306506	HCF	heart:	n/a
5	chr3:50307037-50307087	A549	lung:	n/a
6	chr3:50306107-50306157	NHDF-neo	bronchial:	n/a
7	chr3:50306456-50306506	SAEC	small airway:	n/a
8	chr3:50306456-50306506	HRCEpiC	kidney:	n/a
9	chr3:50306428-50306478	U87	brain:	n/a
10	chr3:50306878-50306928	SK-N-MC	brain:	n/a
11	chr3:50306107-50306157	ECC-1	luminal epithelium:	n/a
12	chr3:50306456-50306506	PFSK-1	brain:	n/a
13	chr3:50306878-50306928	Hepatocyte	liver:	n/a
14	chr3:50306107-50306157	AG04450	lung:	fetal
15	chr3:50306456-50306506	A549	lung:	n/a
16	chr3:50306456-50306506	AG04449	skin:	fetal
17	chr3:50306428-50306478	PFSK-1	brain:	n/a
18	chr3:50306428-50306478	HRCEpiC	kidney:	n/a
19	chr3:50307037-50307087	GM12891	blood:	n/a
20	chr3:50307037-50307087	H1-hESC	embryonic stem cell:	embryo
21	chr3:50306878-50306928	GM12878	blood:	n/a
22	chr3:50306107-50306157	HRCEpiC	kidney:	n/a
23	chr3:50307037-50307087	NHBE	bronchial:	n/a
24	chr3:50306878-50306928	AG04450	lung:	fetal
25	chr3:50307037-50307087	ProgFib	skin:	n/a
26	chr3:50306107-50306157	ovcar-3	ovarian:	n/a
27	chr3:50306456-50306506	NHDF-neo	bronchial:	n/a
28	chr3:50306456-50306506	HEK293	kidney:	embryo
29	chr3:50306107-50306157	HCM	heart:	n/a
30	chr3:50306456-50306506	Hela-S3	cervix:	n/a
31	chr3:50306428-50306478	AG09319	gingival:	n/a
32	chr3:50306456-50306506	PANC-1	pancreas:	n/a
33	chr3:50306878-50306928	Caco-2	colon:	n/a
34	chr3:50306107-50306157	SKMC	muscle:	n/a
35	chr3:50306878-50306928	SAEC	small airway:	n/a
36	chr3:50306428-50306478	RPTEC	kidney:	n/a
37	chr3:50306878-50306928	MCF10A-Er-Src	breast:	n/a
38	chr3:50306428-50306478	GM12892	blood:	n/a
39	chr3:50307037-50307087	AG04449	skin:	fetal
40	chr3:50307037-50307087	K562	blood:	n/a
41	chr3:50306107-50306157	GM19239	blood:	n/a
42	chr3:50306878-50306928	GM19239	blood:	n/a
43	chr3:50307037-50307087	MCF-7	breast:	n/a
44	chr3:50306428-50306478	HUVEC	blood vessel:	n/a
45	chr3:50306428-50306478	PANC-1	pancreas:	n/a
46	chr3:50306428-50306478	AG10803	skin:	n/a
47	chr3:50306878-50306928	HEEpiC	esophagus:	n/a
48	chr3:50306428-50306478	HMEC	breast:	n/a
49	chr3:50306428-50306478	GM19239	blood:	n/a
50	chr3:50306428-50306478	NB4	blood:	n/a

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:50303839..50307896-chr3:50307992..50312285,6	K562	blood:
2	chr3:50305661..50309418-chr3:50646590..50649218,4	MCF-7	breast:
3	chr3:50273331..50275965-chr3:50307293..50309702,3	K562	blood:
4	chr3:50307655..50309252-chr3:50364731..50366964,2	MCF-7	breast:
5	chr3:50296030..50318456-chr3:50318822..50339499,66	MCF-7	breast:
6	chr3:50230717..50232832-chr3:50306481..50309139,3	MCF-7	breast:
7	chr3:50307758..50309576-chr3:50315443..50317608,2	MCF-7	breast:
8	chr3:50283679..50285186-chr3:50302966..50305598,2	MCF-7	breast:
9	chr3:50303166..50306016-chr3:50377616..50380162,2	MCF-7	breast:
10	chr16:68269497..68270482-chr3:50307551..50308405,2	Hela-S3	cervix:
11	chr3:50263329..50265945-chr3:50304560..50306258,2	MCF-7	breast:
12	chr3:50307238..50313479-chr3:50353130..50365794,18	MCF-7	breast:
13	chr3:50305641..50310504-chr3:50314554..50317584,4	K562	blood:
14	chr3:50242278..50244597-chr3:50304376..50306670,2	K562	blood:
15	chr3:50263019..50266611-chr3:50304390..50308892,11	MCF-7	breast:
16	chr3:50271706..50275857-chr3:50303511..50313889,17	MCF-7	breast:
17	chr3:50305234..50312110-chr3:50326257..50332221,8	MCF-7	breast:
18	chr3:50307506..50309682-chr3:50327252..50328959,2	K562	blood:
19	chr3:50220929..50223103-chr3:50305394..50307626,2	K562	blood:
20	chr3:50281584..50285263-chr3:50304924..50308731,5	MCF-7	breast:
21	chr3:50300460..50314689-chr3:50349154..50363682,34	MCF-7	breast:
22	chr3:50303783..50306378-chr3:50387690..50389658,2	MCF-7	breast:
23	chr3:50263554..50267133-chr3:50306867..50310561,4	K562	blood:
24	chr3:50304620..50307086-chr3:50310040..50312285,3	K562	blood:
25	chr3:50307506..50309682-chr3:50326891..50328959,3	K562	blood:
26	chr3:50229772..50232477-chr3:50306774..50308819,2	K562	blood:
27	chr3:50266814..50271565-chr3:50304984..50308896,4	MCF-7	breast:
28	chr3:50288326..50289923-chr3:50306596..50308969,2	MCF-7	breast:

No data

Variant related genes	Relation type
SEMA3B	TF binding region
SEMA3B-AS1	TF binding region
SEMA3B	CpG island
SEMA3B-AS1	CpG island
ENSG00000068001	chromatin interactions
ENSG00000068028	chromatin interactions
ENSG00000188338	chromatin interactions
ENSG00000235058	chromatin interactions
ENSG00000114738	chromatin interactions
ENSG00000004838	chromatin interactions
ENSG00000179564	chromatin interactions
ENSG00000243477	chromatin interactions
ENSG00000114395	chromatin interactions
ENSG00000186792	chromatin interactions
ENSG00000114388	chromatin interactions
ENSG00000114383	chromatin interactions
ENSG00000114737	chromatin interactions
ENSG00000012171	chromatin interactions
ENSG00000001617	chromatin interactions
ENSG00000214706	chromatin interactions
ENSG00000272104	chromatin interactions
ENSG00000114378	chromatin interactions
ENSG00000114349	chromatin interactions
ENSG00000103067	chromatin interactions
ENSG00000114353	chromatin interactions

Extended variants
information (count: 78 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587675644	chr3:50305384-50305385	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
2	rs143951740	chr3:50305402-50305403	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
3	rs587619814	chr3:50305415-50305416	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
4	rs587669664	chr3:50305457-50305458	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
5	rs373315971	chr3:50305476-50305477	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
6	rs199789939	chr3:50305531-50305532	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
7	rs376057800	chr3:50305538-50305539	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
8	rs80063532	chr3:50305572-50305573	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
9	rs587652030	chr3:50305579-50305580	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
10	rs587711348	chr3:50305595-50305596	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
11	rs587775787	chr3:50305634-50305635	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
12	rs114709396	chr3:50305768-50305769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
13	rs587723592	chr3:50305858-50305859	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
14	rs190464931	chr3:50305865-50305866	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
15	rs201705456	chr3:50305889-50305890	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
16	rs587724494	chr3:50305949-50305950	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
17	rs587646578	chr3:50305959-50305960	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
18	rs587736558	chr3:50305961-50305962	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
19	rs587701318	chr3:50305993-50305994	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
20	rs587761359	chr3:50306021-50306022	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
21	rs587638933	chr3:50306033-50306034	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
22	rs146880231	chr3:50306042-50306043	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
23	rs3806708	chr3:50306249-50306250	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs587651195	chr3:50306274-50306275	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
25	rs587721050	chr3:50306277-50306278	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
26	rs192478107	chr3:50306338-50306339	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
27	rs587676274	chr3:50306345-50306346	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
28	rs140696803	chr3:50306357-50306358	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
29	rs184654138	chr3:50306375-50306376	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
30	rs146223801	chr3:50306422-50306423	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
31	rs189067344	chr3:50306432-50306433	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
32	rs587686951	chr3:50306460-50306461	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
33	rs587769670	chr3:50306550-50306551	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
34	rs587729299	chr3:50306552-50306553	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
35	rs9875873	chr3:50306632-50306633	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs587687249	chr3:50306672-50306673	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
37	rs587728978	chr3:50306683-50306684	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
38	rs368463287	chr3:50306694-50306695	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
39	rs112023020	chr3:50306745-50306746	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
40	rs67324803	chr3:50306752-50306753	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
41	rs587618842	chr3:50306760-50306761	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
42	rs587684191	chr3:50306776-50306777	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
43	rs587765815	chr3:50306799-50306800	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
44	rs587640912	chr3:50306857-50306858	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
45	rs587697850	chr3:50306878-50306879	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
46	rs368012055	chr3:50306879-50306880	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
47	rs145816503	chr3:50306959-50306960	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
48	rs587642585	chr3:50306980-50306981	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
49	rs587717870	chr3:50306991-50306992	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
50	rs587600916	chr3:50307037-50307038	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute myeloid leukemia	17268525	CNVD
Salivary gland tumor	18059337	CNVD
Gastric cancer	16891809	CNVD
Night blindness	17160897	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Lung cancer	17297452	CNVD
Multiple myeloma	16616336	CNVD
Effusion lymphoma	18079361	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cancer	20164919	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:297 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50299800-50306200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr3:50300400-50306600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr3:50300600-50307800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr3:50300800-50306600	Flanking Active TSS	Hela-S3	cervix
5	chr3:50300800-50307400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:50300800-50307600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr3:50301000-50307200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr3:50301000-50307600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:50301000-50308200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:50301200-50307600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr3:50301600-50305800	Enhancers	Fetal Lung	lung
12	chr3:50301600-50307600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr3:50302200-50306000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr3:50302400-50307800	Flanking Active TSS	Stomach Smooth Muscle	stomach
15	chr3:50302600-50309600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr3:50302800-50305400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr3:50303600-50307800	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr3:50303600-50307800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr3:50303800-50305600	Flanking Active TSS	Placenta	Placenta
20	chr3:50303800-50305800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
21	chr3:50303800-50306400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
22	chr3:50304000-50305400	Active TSS	Aorta	Aorta
23	chr3:50304000-50305800	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr3:50304000-50306400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
25	chr3:50304000-50308000	Flanking Active TSS	Colonic Mucosa	Colon
26	chr3:50304000-50308000	Flanking Active TSS	NHLF	lung
27	chr3:50304000-50308600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr3:50304200-50305600	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr3:50304200-50305600	Flanking Active TSS	Fetal Intestine Large	intestine
30	chr3:50304200-50307800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr3:50304400-50305400	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr3:50304400-50305400	Flanking Active TSS	Fetal Intestine Small	intestine
33	chr3:50304400-50305400	Flanking Active TSS	Pancreas	Pancrea
34	chr3:50304400-50305600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
35	chr3:50304400-50305600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
36	chr3:50304400-50305600	Flanking Active TSS	Stomach Mucosa	stomach
37	chr3:50304400-50305800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr3:50304400-50305800	Enhancers	Fetal Brain Male	brain
39	chr3:50304400-50305800	Active TSS	Fetal Kidney	kidney
40	chr3:50304400-50306000	Enhancers	Liver	Liver
41	chr3:50304400-50306400	Enhancers	A549	lung
42	chr3:50304400-50306600	Flanking Active TSS	HepG2	liver
43	chr3:50304400-50307000	Flanking Active TSS	Fetal Muscle Leg	muscle
44	chr3:50304400-50307600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr3:50304400-50307600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr3:50304600-50305400	Active TSS	Brain Hippocampus Middle	brain
47	chr3:50304600-50305600	Bivalent Enhancer	Fetal Thymus	thymus
48	chr3:50304600-50305800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr3:50304600-50305800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr3:50304600-50305800	Active TSS	Rectal Smooth Muscle	rectum

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