Variant report

Variant	esv3422948
Chromosome Location	chr2:205409232-205412080
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:205410170-205410266	HepG2	liver:	n/a	n/a
2	BACH1	chr2:205409576-205409993	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr2:205409733-205409969	K562	blood:	n/a	chr2:205409753-205409769
4	CCNT2	chr2:205410018-205410398	K562	blood:	n/a	n/a
5	CEBPB	chr2:205411104-205411482	IMR90	lung:	n/a	chr2:205411288-205411299 chr2:205411289-205411300
6	CEBPB	chr2:205411108-205411462	ECC-1	luminal epithelium:	n/a	chr2:205411288-205411299 chr2:205411289-205411300
7	CEBPB	chr2:205411146-205411464	HepG2	liver:	n/a	chr2:205411288-205411299 chr2:205411289-205411300
8	CEBPB	chr2:205411128-205411658	Hela-S3	cervix:	n/a	chr2:205411288-205411299 chr2:205411289-205411300
9	CEBPB	chr2:205409443-205410423	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr2:205411125-205411476	K562	blood:	n/a	chr2:205411288-205411299 chr2:205411289-205411300
11	CHD1	chr2:205410323-205410330	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD1	chr2:205409488-205411400	IMR90	lung:	n/a	n/a
13	CHD2	chr2:205410699-205411131	H1-hESC	embryonic stem cell:	n/a	n/a
14	CHD2	chr2:205409564-205410305	Hela-S3	cervix:	n/a	n/a
15	CHD2	chr2:205409877-205410240	H1-hESC	embryonic stem cell:	n/a	n/a
16	CREB1	chr2:205409962-205410492	A549	lung:	n/a	n/a
17	CTBP2	chr2:205409740-205411060	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr2:205409872-205409920	Fibrobl	skin:	n/a	n/a
19	CTCF	chr2:205409860-205410010	HCPEpiC	choroid plexus:	n/a	n/a
20	CTCF	chr2:205410847-205410975	MCF-7	breast:	n/a	n/a
21	CTCF	chr2:205410717-205410986	MCF-7	breast:	n/a	n/a
22	CTCF	chr2:205410040-205410190	AG04449	skin:	n/a	n/a
23	CTCF	chr2:205409940-205410090	SAEC	small airway:	n/a	n/a
24	CTCF	chr2:205410480-205410630	AG04449	skin:	n/a	chr2:205410537-205410550
25	CTCF	chr2:205410808-205410991	MCF-7	breast:	n/a	n/a
26	CTCF	chr2:205410738-205410978	MCF-7	breast:	n/a	n/a
27	CTCF	chr2:205410836-205410928	Fibrobl	skin:	n/a	n/a
28	CTCF	chr2:205410521-205410591	MCF-7	breast:	n/a	chr2:205410537-205410550
29	CTCF	chr2:205410744-205410970	MCF-7	breast:	n/a	n/a
30	CTCF	chr2:205410845-205410846	MCF-7	breast:	n/a	n/a
31	CTCF	chr2:205410720-205410870	HRE	kidney:	n/a	n/a
32	CTCF	chr2:205410800-205410950	Caco-2	colon:	n/a	n/a
33	E2F4	chr2:205409956-205410901	MCF10A-Er-Src	breast:	n/a	chr2:205410532-205410544 chr2:205410300-205410310 chr2:205410216-205410226
34	E2F6	chr2:205409443-205411309	K562	blood:	n/a	chr2:205410532-205410544 chr2:205410300-205410310 chr2:205410216-205410226 chr2:205410041-205410052
35	E2F6	chr2:205409467-205411092	H1-hESC	embryonic stem cell:	n/a	chr2:205410532-205410544 chr2:205410300-205410310 chr2:205410216-205410226 chr2:205410041-205410052
36	E2F6	chr2:205409613-205410851	Hela-S3	cervix:	n/a	chr2:205410532-205410544 chr2:205410300-205410310 chr2:205410216-205410226 chr2:205410041-205410052
37	E2F6	chr2:205409478-205410624	A549	lung:	n/a	chr2:205410532-205410544 chr2:205410300-205410310 chr2:205410216-205410226 chr2:205410041-205410052
38	E2F6	chr2:205410079-205410229	K562	blood:	n/a	chr2:205410216-205410226
39	E2F6	chr2:205409340-205411212	H1-hESC	embryonic stem cell:	n/a	chr2:205410532-205410544 chr2:205410300-205410310 chr2:205410216-205410226 chr2:205410041-205410052
40	E2F6	chr2:205409662-205410657	K562	blood:	n/a	chr2:205410532-205410544 chr2:205410300-205410310 chr2:205410216-205410226 chr2:205410041-205410052
41	E2F6	chr2:205409740-205410362	A549	lung:	n/a	chr2:205410300-205410310 chr2:205410216-205410226 chr2:205410041-205410052
42	EGR1	chr2:205409915-205410373	H1-hESC	embryonic stem cell:	n/a	chr2:205410214-205410223
43	EP300	chr2:205409670-205410607	ECC-1	luminal epithelium:	n/a	chr2:205410216-205410225
44	FOS	chr2:205409733-205409735	MCF10A-Er-Src	breast:	n/a	n/a
45	FOXA1	chr2:205409426-205409750	T-47D	breast:	n/a	n/a
46	FOXA1	chr2:205409446-205409754	T-47D	breast:	n/a	n/a
47	GATA3	chr2:205409431-205409832	T-47D	breast:	n/a	n/a
48	GATA3	chr2:205409417-205409812	T-47D	breast:	n/a	n/a
49	GATA3	chr2:205409339-205410160	MCF-7	breast:	n/a	n/a
50	GATA3	chr2:205409367-205410265	MCF-7	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:205411786-205411836	HL-60	blood:	n/a
2	chr2:205411786-205411836	ovcar-3	ovarian:	n/a
3	chr2:205411786-205411836	HL-60	blood:	n/a
4	chr2:205411786-205411836	ovcar-3	ovarian:	n/a
5	chr2:205409988-205410038	LNCaP	prostate:	n/a
6	chr2:205409988-205410038	AoSMC	blood vessel:	n/a
7	chr2:205411786-205411836	MCF10A-Er-Src	breast:	n/a
8	chr2:205411786-205411836	HCM	heart:	n/a
9	chr2:205410517-205410567	GM12892	blood:	n/a
10	chr2:205410786-205410836	MCF-7	breast:	n/a
11	chr2:205410399-205410449	IMR90	lung:	fetal
12	chr2:205411524-205411574	ECC-1	luminal epithelium:	n/a
13	chr2:205410273-205410323	SAEC	small airway:	n/a
14	chr2:205410435-205410485	HEK293	kidney:	embryo
15	chr2:205410517-205410567	CMK	blood:	n/a
16	chr2:205410401-205410451	AoSMC	blood vessel:	n/a
17	chr2:205409988-205410038	K562	blood:	n/a
18	chr2:205410401-205410451	GM12892	blood:	n/a
19	chr2:205409940-205409990	AG10803	skin:	n/a
20	chr2:205410273-205410323	PFSK-1	brain:	n/a
21	chr2:205410786-205410836	HPAEpiC	pulmonary alveolar:	n/a
22	chr2:205410909-205410959	AG04450	lung:	fetal
23	chr2:205410401-205410451	AG09319	gingival:	n/a
24	chr2:205410401-205410451	Caco-2	colon:	n/a
25	chr2:205410401-205410451	GM12878	blood:	n/a
26	chr2:205410387-205410437	HNPCEpiC	eye:	n/a
27	chr2:205410435-205410485	SKMC	muscle:	n/a
28	chr2:205411786-205411836	HepG2	liver:	n/a
29	chr2:205410401-205410451	HCF	heart:	n/a
30	chr2:205409988-205410038	GM12891	blood:	n/a
31	chr2:205410387-205410437	MCF10A-Er-Src	breast:	n/a
32	chr2:205410108-205410158	ECC-1	luminal epithelium:	n/a
33	chr2:205410273-205410323	AG09319	gingival:	n/a
34	chr2:205410273-205410323	BJ	skin:	n/a
35	chr2:205411524-205411574	HL-60	blood:	n/a
36	chr2:205411524-205411574	Hepatocyte	liver:	n/a
37	chr2:205410435-205410485	Hepatocyte	liver:	n/a
38	chr2:205411524-205411574	LNCaP	prostate:	n/a
39	chr2:205410399-205410449	NHDF-neo	bronchial:	n/a
40	chr2:205410387-205410437	HRCEpiC	kidney:	n/a
41	chr2:205410273-205410323	ProgFib	skin:	n/a
42	chr2:205409940-205409990	SKMC	muscle:	n/a
43	chr2:205409940-205409990	HEEpiC	esophagus:	n/a
44	chr2:205410401-205410451	ECC-1	luminal epithelium:	n/a
45	chr2:205410401-205410451	HEK293	kidney:	embryo
46	chr2:205410273-205410323	Hela-S3	cervix:	n/a
47	chr2:205410786-205410836	PFSK-1	brain:	n/a
48	chr2:205410517-205410567	HepG2	liver:	n/a
49	chr2:205410387-205410437	Hela-S3	cervix:	n/a
50	chr2:205410401-205410451	BE2_C	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:205406485..205408306-chr2:205408736..205410499,2	K562	blood:
2	chr2:205411083..205413447-chr2:205421490..205423717,2	K562	blood:
3	chr2:205407568..205411328-chr2:205411600..205414612,5	MCF-7	breast:
4	chr2:205409966..205412745-chr6:70504641..70507004,2	MCF-7	breast:
5	chr2:205396469..205398520-chr2:205407937..205409704,2	MCF-7	breast:
6	chr2:205297634..205300011-chr2:205411567..205413627,2	K562	blood:

Variant related genes	Relation type
PARD3B	TF binding region
PARD3B	CpG island
ENSG00000116117	chromatin interactions
ENSG00000168216	chromatin interactions

Extended variants
information (count: 101 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190306702	chr2:205409245-205409246	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs567836410	chr2:205409365-205409366	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs528788571	chr2:205409376-205409377	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs569186230	chr2:205409411-205409412	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs10185786	chr2:205409412-205409413	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs141058919	chr2:205409436-205409437	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs144842876	chr2:205409465-205409466	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs573200233	chr2:205409468-205409469	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs556917564	chr2:205409495-205409496	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs540456628	chr2:205409500-205409501	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs181504859	chr2:205409534-205409535	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs202089010	chr2:205409555-205409556	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs375410380	chr2:205409583-205409584	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs536338332	chr2:205409632-205409633	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs185702087	chr2:205409700-205409701	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs558713571	chr2:205409721-205409722	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs529682543	chr2:205409746-205409747	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs572947609	chr2:205409796-205409797	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs146757241	chr2:205409811-205409812	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs576885488	chr2:205409821-205409822	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs577193501	chr2:205409833-205409834	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs544254129	chr2:205409838-205409839	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs562461861	chr2:205409860-205409861	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs115483762	chr2:205409871-205409872	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs190574844	chr2:205409902-205409903	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs561325629	chr2:205409913-205409914	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs141191304	chr2:205410026-205410027	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs528653772	chr2:205410033-205410034	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs544379078	chr2:205410050-205410051	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs12328697	chr2:205410066-205410067	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs532664281	chr2:205410150-205410151	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs550602028	chr2:205410155-205410156	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs6761602	chr2:205410200-205410201	Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs368108308	chr2:205410231-205410232	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs370691962	chr2:205410237-205410238	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs561632177	chr2:205410334-205410335	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs374178145	chr2:205410406-205410407	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs566562257	chr2:205410438-205410439	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs5837924	chr2:205410460-205410461	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs534026105	chr2:205410474-205410475	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs558464725	chr2:205410496-205410497	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs562352752	chr2:205410555-205410556	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs544505852	chr2:205410564-205410565	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs368395071	chr2:205410618-205410619	Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs574436659	chr2:205410625-205410626	Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs541577270	chr2:205410671-205410672	Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs560230530	chr2:205410673-205410674	Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs572026380	chr2:205410680-205410681	Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs540871914	chr2:205410710-205410711	Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs565128195	chr2:205410713-205410714	Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	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
Urothelial carcinoma	21177765	CNVD
Breast cancer	21045282	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Cervical cancer	21062161	CNVD
Intracranial aneurysm	16715129	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Cancer	20164920	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:542 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205397600-205409600	Weak transcription	Pancreas	Pancrea
2	chr2:205398600-205409400	Weak transcription	HSMMtube	muscle
3	chr2:205403400-205409600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:205403600-205409400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:205403600-205409400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:205403800-205409600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:205404000-205409400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:205404000-205409400	Weak transcription	HSMM	muscle
9	chr2:205404200-205409400	Weak transcription	NHLF	lung
10	chr2:205407000-205409400	Weak transcription	K562	blood
11	chr2:205407600-205409400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:205407600-205409400	Enhancers	NHDF-Ad	bronchial
13	chr2:205408200-205409400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:205408200-205409400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr2:205409000-205409400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:205409000-205409400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:205409000-205409400	Enhancers	Liver	Liver
18	chr2:205409200-205409400	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
19	chr2:205409200-205409400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:205409200-205409400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
21	chr2:205409200-205409400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
22	chr2:205409200-205409400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:205409200-205409400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
24	chr2:205409200-205409400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
25	chr2:205409200-205409400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr2:205409200-205409400	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr2:205409200-205409400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
28	chr2:205409200-205409400	Bivalent/Poised TSS	Primary T helper cells PMA-I stimulated	--
29	chr2:205409200-205409400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
30	chr2:205409200-205409400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:205409200-205409400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:205409200-205409400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:205409200-205409400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:205409200-205409400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:205409200-205409400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:205409200-205409400	Active TSS	Brain Angular Gyrus	brain
37	chr2:205409200-205409400	Enhancers	Brain Cingulate Gyrus	brain
38	chr2:205409200-205409400	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr2:205409200-205409400	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr2:205409200-205409400	Enhancers	Colon Smooth Muscle	Colon
41	chr2:205409200-205409400	Enhancers	Duodenum Mucosa	Duodenum
42	chr2:205409200-205409400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr2:205409200-205409400	Enhancers	Fetal Heart	heart
44	chr2:205409200-205409400	Enhancers	Fetal Kidney	kidney
45	chr2:205409200-205409400	Enhancers	Fetal Lung	lung
46	chr2:205409200-205409400	Bivalent Enhancer	Fetal Muscle Leg	muscle
47	chr2:205409200-205409400	Enhancers	Ovary	ovary
48	chr2:205409200-205409400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
49	chr2:205409200-205409400	Enhancers	Rectal Smooth Muscle	rectum
50	chr2:205409200-205409400	Enhancers	Right Ventricle	heart

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