Variant report

Variant	esv3441594
Chromosome Location	chr2:191044357-191046805
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	chr2:191046535-191047030	K562	blood:	n/a	n/a
2	ARID3A	chr2:191045018-191045138	K562	blood:	n/a	n/a
3	ARID3A	chr2:191045029-191045354	HepG2	liver:	n/a	n/a
4	ATF1	chr2:191046742-191047078	K562	blood:	n/a	n/a
5	BACH1	chr2:191045323-191045478	H1-hESC	embryonic stem cell:	n/a	n/a
6	BATF	chr2:191044407-191044741	GM12878	blood:	n/a	n/a
7	BHLHE40	chr2:191044950-191045807	GM12878	blood:	n/a	chr2:191045441-191045457 chr2:191045670-191045686
8	BHLHE40	chr2:191044948-191045295	K562	blood:	n/a	n/a
9	BHLHE40	chr2:191044450-191044725	GM12878	blood:	n/a	n/a
10	BHLHE40	chr2:191045704-191045848	K562	blood:	n/a	n/a
11	BRCA1	chr2:191044546-191045090	HepG2	liver:	n/a	n/a
12	CBX3	chr2:191046731-191047342	K562	blood:	n/a	n/a
13	CBX3	chr2:191044799-191045338	K562	blood:	n/a	n/a
14	CCNT2	chr2:191044878-191045889	K562	blood:	n/a	n/a
15	CCNT2	chr2:191046760-191047002	K562	blood:	n/a	n/a
16	CEBPB	chr2:191045680-191046002	HepG2	liver:	n/a	n/a
17	CEBPB	chr2:191045733-191045982	K562	blood:	n/a	n/a
18	CEBPD	chr2:191045321-191045805	HepG2	liver:	n/a	n/a
19	CEBPD	chr2:191044857-191045209	HepG2	liver:	n/a	n/a
20	CEBPD	chr2:191044848-191045475	HepG2	liver:	n/a	n/a
21	CHD1	chr2:191044817-191045406	GM12878	blood:	n/a	n/a
22	CHD1	chr2:191045639-191045982	GM12878	blood:	n/a	n/a
23	CHD2	chr2:191044800-191045394	H1-hESC	embryonic stem cell:	n/a	n/a
24	CHD2	chr2:191044559-191045748	HepG2	liver:	n/a	n/a
25	CHD2	chr2:191044672-191045530	GM12878	blood:	n/a	n/a
26	CHD2	chr2:191044787-191045470	K562	blood:	n/a	n/a
27	CREB1	chr2:191044663-191046085	HepG2	liver:	n/a	n/a
28	CTBP2	chr2:191044861-191045831	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr2:191044736-191045466	HCT-116	colon:	n/a	chr2:191045026-191045044 chr2:191045028-191045041
30	CTCF	chr2:191045360-191045610	GM12866	blood:	n/a	chr2:191045468-191045486
31	CTCF	chr2:191044925-191045479	Fibrobl	skin:	n/a	chr2:191045026-191045044 chr2:191045028-191045041
32	CTCF	chr2:191044905-191045239	GM12878	blood:	n/a	chr2:191045026-191045044 chr2:191045028-191045041
33	CTCF	chr2:191044980-191045130	HBMEC	blood vessel:	n/a	chr2:191045026-191045044 chr2:191045028-191045041
34	CTCF	chr2:191044980-191045130	GM06990	blood:	n/a	chr2:191045026-191045044 chr2:191045028-191045041
35	CTCF	chr2:191044960-191045110	GM12872	blood:	n/a	chr2:191045026-191045044 chr2:191045028-191045041
36	CTCF	chr2:191044980-191045130	GM12878	blood:	n/a	chr2:191045026-191045044 chr2:191045028-191045041
37	CTCF	chr2:191044980-191045130	GM12868	blood:	n/a	chr2:191045026-191045044 chr2:191045028-191045041
38	CTCF	chr2:191044853-191045280	H1-hESC	embryonic stem cell:	n/a	chr2:191045026-191045044 chr2:191045028-191045041
39	CTCF	chr2:191045413-191045509	GM13976	blood:	n/a	chr2:191045468-191045486
40	CTCF	chr2:191044920-191045070	GM12864	blood:	n/a	chr2:191045026-191045044 chr2:191045028-191045041
41	CTCF	chr2:191045480-191045630	GM12871	blood:	n/a	n/a
42	CTCF	chr2:191044980-191045130	HA-sp	spinal cord:	n/a	chr2:191045026-191045044 chr2:191045028-191045041
43	CTCF	chr2:191044940-191045090	HVMF	connective:	n/a	chr2:191045026-191045044 chr2:191045028-191045041
44	CTCF	chr2:191044980-191045130	GM12865	blood:	n/a	chr2:191045026-191045044 chr2:191045028-191045041
45	CTCF	chr2:191044960-191045110	HepG2	liver:	n/a	chr2:191045026-191045044 chr2:191045028-191045041
46	CTCF	chr2:191045487-191045489	GM19238	blood:	n/a	n/a
47	CTCF	chr2:191044920-191045070	BJ	skin:	n/a	chr2:191045026-191045044 chr2:191045028-191045041
48	CTCF	chr2:191045300-191045450	HRE	kidney:	n/a	n/a
49	CTCF	chr2:191044829-191045592	GM12878	blood:	n/a	chr2:191045026-191045044 chr2:191045468-191045486 chr2:191045028-191045041
50	CTCF	chr2:191044948-191045151	MCF-7	breast:	n/a	chr2:191045026-191045044 chr2:191045028-191045041

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:191045563-191045613	GM12878	blood:	n/a
2	chr2:191045563-191045613	AG04449	skin:	fetal
3	chr2:191045697-191045747	HIPEpiC	eye:	n/a
4	chr2:191045563-191045613	GM12878	blood:	n/a
5	chr2:191045563-191045613	AG04449	skin:	fetal
6	chr2:191045697-191045747	HIPEpiC	eye:	n/a
7	chr2:191045697-191045747	GM12892	blood:	n/a
8	chr2:191045430-191045480	PFSK-1	brain:	n/a
9	chr2:191045668-191045718	HAEpiC	amniotic membrane:	n/a
10	chr2:191045668-191045718	H1-hESC	embryonic stem cell:	embryo
11	chr2:191044481-191044531	SK-N-SH_RA	brain:	n/a
12	chr2:191045668-191045718	ProgFib	skin:	n/a
13	chr2:191045885-191045935	HL-60	blood:	n/a
14	chr2:191045026-191045076	HPAEpiC	pulmonary alveolar:	n/a
15	chr2:191044980-191045030	AoSMC	blood vessel:	n/a
16	chr2:191044481-191044531	HRPEpiC	eye:	n/a
17	chr2:191045563-191045613	ovcar-3	ovarian:	n/a
18	chr2:191045430-191045480	NHDF-neo	bronchial:	n/a
19	chr2:191045885-191045935	AG04449	skin:	fetal
20	chr2:191045635-191045685	ECC-1	luminal epithelium:	n/a
21	chr2:191045026-191045076	GM06990	blood:	n/a
22	chr2:191045697-191045747	HepG2	liver:	n/a
23	chr2:191045309-191045359	NHBE	bronchial:	n/a
24	chr2:191045026-191045076	PFSK-1	brain:	n/a
25	chr2:191044980-191045030	HEK293	kidney:	embryo
26	chr2:191045635-191045685	AG04449	skin:	fetal
27	chr2:191045632-191045682	Caco-2	colon:	n/a
28	chr2:191044481-191044531	AoSMC	blood vessel:	n/a
29	chr2:191045632-191045682	U87	brain:	n/a
30	chr2:191044915-191044965	GM12891	blood:	n/a
31	chr2:191045632-191045682	HepG2	liver:	n/a
32	chr2:191045668-191045718	NH-A	brain:	n/a
33	chr2:191045563-191045613	T-47D	breast:	n/a
34	chr2:191045632-191045682	PrEC	prostate:	n/a
35	chr2:191045635-191045685	Hepatocyte	liver:	n/a
36	chr2:191045563-191045613	GM12891	blood:	n/a
37	chr2:191045309-191045359	HPAEpiC	pulmonary alveolar:	n/a
38	chr2:191045026-191045076	U87	brain:	n/a
39	chr2:191045632-191045682	NB4	blood:	n/a
40	chr2:191045309-191045359	SKMC	muscle:	n/a
41	chr2:191045430-191045480	SK-N-MC	brain:	n/a
42	chr2:191045885-191045935	PrEC	prostate:	n/a
43	chr2:191045632-191045682	H1-hESC	embryonic stem cell:	embryo
44	chr2:191044915-191044965	GM06990	blood:	n/a
45	chr2:191045632-191045682	Hela-S3	cervix:	n/a
46	chr2:191044915-191044965	NHDF-neo	bronchial:	n/a
47	chr2:191045668-191045718	AG04450	lung:	fetal
48	chr2:191045026-191045076	SK-N-SH_RA	brain:	n/a
49	chr2:191045309-191045359	HNPCEpiC	eye:	n/a
50	chr2:191045668-191045718	HCM	heart:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:191040400..191043203-chr2:191043508..191045090,2	K562	blood:
2	chr2:190953744..190954273-chr2:191044612..191045298,2	K562	blood:

Variant related genes	Relation type
C2orf88	TF binding region
C2orf88	CpG island
ENSG00000187699	chromatin interactions

Extended variants
information (count: 69 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73978977	chr2:191044380-191044381	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546487873	chr2:191044394-191044395	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs9288169	chr2:191044418-191044419	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs77968870	chr2:191044428-191044429	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs114278685	chr2:191044507-191044508	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs546580421	chr2:191044528-191044529	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs698605	chr2:191044549-191044550	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs529325843	chr2:191044559-191044560	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs550769130	chr2:191044579-191044580	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs150993332	chr2:191044585-191044586	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs140840179	chr2:191044686-191044687	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs191826933	chr2:191044701-191044702	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs558033137	chr2:191044770-191044771	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs386653720	chr2:191044797-191044798	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs114066682	chr2:191044798-191044799	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs182521343	chr2:191044819-191044820	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs150133810	chr2:191044921-191044922	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs544313968	chr2:191044963-191044964	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs555947484	chr2:191044973-191044974	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs575800365	chr2:191045004-191045005	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs35309627	chr2:191045013-191045014	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs564840656	chr2:191045023-191045024	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs372711289	chr2:191045038-191045039	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs528744139	chr2:191045049-191045050	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs540260270	chr2:191045056-191045057	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs561767898	chr2:191045069-191045070	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs568093849	chr2:191045132-191045133	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs529215565	chr2:191045133-191045134	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs551062613	chr2:191045158-191045159	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs12993362	chr2:191045192-191045193	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs13019730	chr2:191045208-191045209	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs551274100	chr2:191045224-191045225	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs566803879	chr2:191045249-191045250	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs572597796	chr2:191045294-191045295	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs534104406	chr2:191045303-191045304	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs549266926	chr2:191045360-191045361	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs567281942	chr2:191045473-191045474	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
38	rs537398767	chr2:191045622-191045623	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs113926978	chr2:191045637-191045638	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
40	rs373920111	chr2:191045661-191045662	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
41	rs377704660	chr2:191045664-191045665	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
42	rs540059836	chr2:191045697-191045698	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs557910599	chr2:191045707-191045708	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
44	rs111664934	chr2:191045757-191045758	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
45	rs573072681	chr2:191045776-191045777	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
46	rs540540294	chr2:191045872-191045873	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546330700	chr2:191045918-191045919	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs371013664	chr2:191045922-191045923	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187871422	chr2:191045947-191045948	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs6720084	chr2:191045969-191045970	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:49)

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
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	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
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Ovarian cancer	21720365	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:420 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191037000-191044400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr2:191037000-191044400	Weak transcription	Small Intestine	intestine
3	chr2:191039600-191044800	Weak transcription	Right Atrium	heart
4	chr2:191042000-191044600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:191042000-191044800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:191042400-191044600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:191042600-191044400	Weak transcription	Fetal Heart	heart
8	chr2:191043000-191044400	Weak transcription	GM12878-XiMat	blood
9	chr2:191043000-191044600	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:191043200-191044600	Enhancers	Brain Anterior Caudate	brain
11	chr2:191043200-191044600	Weak transcription	K562	blood
12	chr2:191043200-191044800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:191043400-191044400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:191043400-191044800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:191043400-191044800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:191043400-191044800	Weak transcription	Pancreas	Pancrea
17	chr2:191043600-191044600	Enhancers	Stomach Mucosa	stomach
18	chr2:191043600-191044800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:191043600-191044800	Enhancers	Brain Angular Gyrus	brain
20	chr2:191043600-191044800	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr2:191043600-191044800	Enhancers	Brain Substantia Nigra	brain
22	chr2:191043800-191044800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:191043800-191044800	Enhancers	Fetal Intestine Large	intestine
24	chr2:191044000-191044400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr2:191044000-191044600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:191044000-191044600	Enhancers	Brain Hippocampus Middle	brain
27	chr2:191044200-191044400	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr2:191044200-191044600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:191044200-191044600	Flanking Active TSS	HepG2	liver
30	chr2:191044400-191044600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:191044400-191044600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
32	chr2:191044400-191044600	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr2:191044400-191044600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:191044400-191044600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:191044400-191044600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr2:191044400-191044600	Enhancers	Adipose Nuclei	Adipose
37	chr2:191044400-191044600	Enhancers	Duodenum Mucosa	Duodenum
38	chr2:191044400-191044600	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr2:191044400-191044600	Enhancers	Fetal Heart	heart
40	chr2:191044400-191044600	Enhancers	Fetal Intestine Small	intestine
41	chr2:191044400-191044600	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr2:191044400-191044600	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr2:191044400-191044600	Enhancers	Rectal Smooth Muscle	rectum
44	chr2:191044400-191044600	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr2:191044400-191044600	Enhancers	A549	lung
46	chr2:191044400-191044600	Enhancers	NH-A	brain
47	chr2:191044400-191044600	Enhancers	NHDF-Ad	bronchial
48	chr2:191044400-191044800	Enhancers	Primary B cells from peripheral blood	blood
49	chr2:191044400-191044800	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr2:191044400-191044800	Enhancers	NHEK	skin

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