Variant report

Variant	esv3411164
Chromosome Location	chr2:233791958-233793981
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	BACH1	chr2:233792321-233792326	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTBP2	chr2:233791276-233792285	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr2:233793032-233793040	MCF-7	breast:	n/a	n/a
4	CTCF	chr2:233793007-233793082	Pancreas_OC	pancreas:	n/a	n/a
5	CTCF	chr2:233793014-233793066	MCF-7	breast:	n/a	n/a
6	CTCF	chr2:233792625-233792678	MCF-7	breast:	n/a	n/a
7	CTCF	chr2:233793070-233793094	MCF-7	breast:	n/a	n/a
8	CTCF	chr2:233792641-233792694	MCF-7	breast:	n/a	n/a
9	E2F6	chr2:233791909-233792475	A549	lung:	n/a	chr2:233792309-233792324
10	EGR1	chr2:233792832-233793355	ECC-1	luminal epithelium:	n/a	chr2:233793116-233793126 chr2:233793117-233793132 chr2:233793119-233793130 chr2:233793118-233793131 chr2:233793042-233793055
11	EP300	chr2:233791736-233792411	ECC-1	luminal epithelium:	n/a	n/a
12	FOS	chr2:233791966-233792263	HUVEC	blood vessel:	n/a	n/a
13	MAX	chr2:233791839-233792404	ECC-1	luminal epithelium:	n/a	n/a
14	MAX	chr2:233792595-233792647	A549	lung:	n/a	n/a
15	MAX	chr2:233793559-233794276	H1-hESC	embryonic stem cell:	n/a	chr2:233794117-233794126 chr2:233794116-233794125 chr2:233794114-233794129 chr2:233794116-233794126 chr2:233794112-233794127 chr2:233794115-233794125
16	MAX	chr2:233791892-233792448	ECC-1	luminal epithelium:	n/a	n/a
17	MAX	chr2:233791713-233792795	A549	lung:	n/a	n/a
18	MAX	chr2:233791734-233792398	A549	lung:	n/a	n/a
19	MAX	chr2:233793359-233794290	H1-hESC	embryonic stem cell:	n/a	chr2:233794117-233794126 chr2:233794116-233794125 chr2:233794114-233794129 chr2:233794116-233794126 chr2:233794112-233794127 chr2:233794115-233794125
20	MYC	chr2:233793959-233794194	H1-hESC	embryonic stem cell:	n/a	chr2:233794117-233794126 chr2:233794116-233794125 chr2:233794114-233794129 chr2:233794116-233794126 chr2:233794112-233794127 chr2:233794115-233794125
21	NFIC	chr2:233791952-233792308	ECC-1	luminal epithelium:	n/a	n/a
22	POLR2A	chr2:233792925-233793165	ECC-1	luminal epithelium:	n/a	n/a
23	POLR2A	chr2:233792745-233792889	MCF-7	breast:	n/a	n/a
24	POLR2A	chr2:233791765-233792141	ECC-1	luminal epithelium:	n/a	n/a
25	POLR2A	chr2:233792633-233792992	H1-neurons	neurons:	n/a	n/a
26	POLR2A	chr2:233792089-233792233	Gliobla	brain:	n/a	n/a
27	POLR2A	chr2:233792649-233792915	ECC-1	luminal epithelium:	n/a	n/a
28	POLR2A	chr2:233792736-233792892	A549	lung:	n/a	n/a
29	POLR2A	chr2:233792770-233792846	A549	lung:	n/a	n/a
30	POLR2A	chr2:233792801-233792889	Gliobla	brain:	n/a	n/a
31	POLR2A	chr2:233792127-233792469	H1-neurons	neurons:	n/a	n/a
32	POLR2A	chr2:233793539-233793567	MCF-7	breast:	n/a	n/a
33	POLR2A	chr2:233792601-233793050	H1-neurons	neurons:	n/a	n/a
34	POLR2A	chr2:233792649-233792718	MCF-7	breast:	n/a	n/a
35	RAD21	chr2:233791861-233792386	ECC-1	luminal epithelium:	n/a	n/a
36	SIN3A	chr2:233793029-233793693	H1-hESC	embryonic stem cell:	n/a	chr2:233793095-233793104
37	SIN3A	chr2:233792184-233792309	H1-hESC	embryonic stem cell:	n/a	n/a
38	SUZ12	chr2:233791142-233792682	NT2-D1	testis:	n/a	n/a
39	SUZ12	chr2:233791458-233792155	H1-hESC	embryonic stem cell:	n/a	n/a
40	TAF1	chr2:233791860-233792342	ECC-1	luminal epithelium:	n/a	n/a
41	TCF12	chr2:233793855-233794134	H1-hESC	embryonic stem cell:	n/a	n/a
42	TCF12	chr2:233791851-233792512	ECC-1	luminal epithelium:	n/a	n/a
43	TEAD4	chr2:233793831-233794179	H1-hESC	embryonic stem cell:	n/a	n/a
44	USF1	chr2:233793897-233794292	H1-hESC	embryonic stem cell:	n/a	n/a
45	USF1	chr2:233793921-233794262	H1-hESC	embryonic stem cell:	n/a	n/a
46	YY1	chr2:233791956-233792231	ECC-1	luminal epithelium:	n/a	chr2:233792022-233792036 chr2:233792021-233792035 chr2:233792019-233792030
47	ZBTB7A	chr2:233792918-233793631	ECC-1	luminal epithelium:	n/a	chr2:233793150-233793157
48	ZBTB7A	chr2:233791828-233792532	ECC-1	luminal epithelium:	n/a	chr2:233792481-233792489
49	ZBTB7A	chr2:233792918-233793532	ECC-1	luminal epithelium:	n/a	chr2:233793150-233793157
50	ZBTB7A	chr2:233791819-233792739	ECC-1	luminal epithelium:	n/a	chr2:233792481-233792489

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:233791962-233792012	HRE	kidney:	n/a
2	chr2:233791962-233792012	HRE	kidney:	n/a
3	chr2:233793088-233793138	HRE	kidney:	n/a
4	chr2:233793120-233793170	HAEpiC	amniotic membrane:	n/a
5	chr2:233792732-233792782	NT2-D1	testis:	n/a
6	chr2:233793088-233793138	NHBE	bronchial:	n/a
7	chr2:233793120-233793170	MCF10A-Er-Src	breast:	n/a
8	chr2:233792394-233792444	HEEpiC	esophagus:	n/a
9	chr2:233791962-233792012	NH-A	brain:	n/a
10	chr2:233793088-233793138	SAEC	small airway:	n/a
11	chr2:233793120-233793170	AG04449	skin:	fetal
12	chr2:233793311-233793361	NT2-D1	testis:	n/a
13	chr2:233793921-233793971	NB4	blood:	n/a
14	chr2:233793311-233793361	HUVEC	blood vessel:	n/a
15	chr2:233792732-233792782	HCT-116	colon:	n/a
16	chr2:233792732-233792782	HEEpiC	esophagus:	n/a
17	chr2:233793921-233793971	CMK	blood:	n/a
18	chr2:233792394-233792444	CMK	blood:	n/a
19	chr2:233793311-233793361	NB4	blood:	n/a
20	chr2:233792394-233792444	NB4	blood:	n/a
21	chr2:233793120-233793170	HEEpiC	esophagus:	n/a
22	chr2:233791962-233792012	HCF	heart:	n/a
23	chr2:233793921-233793971	ovcar-3	ovarian:	n/a
24	chr2:233792732-233792782	AG09319	gingival:	n/a
25	chr2:233792394-233792444	HepG2	liver:	n/a
26	chr2:233792732-233792782	AG04450	lung:	fetal
27	chr2:233792394-233792444	PANC-1	pancreas:	n/a
28	chr2:233793921-233793971	HRPEpiC	eye:	n/a
29	chr2:233793088-233793138	MCF-7	breast:	n/a
30	chr2:233793088-233793138	IMR90	lung:	fetal
31	chr2:233793088-233793138	CMK	blood:	n/a
32	chr2:233791962-233792012	MCF10A-Er-Src	breast:	n/a
33	chr2:233793921-233793971	SKMC	muscle:	n/a
34	chr2:233791962-233792012	HEEpiC	esophagus:	n/a
35	chr2:233793921-233793971	HCT-116	colon:	n/a
36	chr2:233793088-233793138	HRPEpiC	eye:	n/a
37	chr2:233793311-233793361	AG04450	lung:	fetal
38	chr2:233793311-233793361	SKMC	muscle:	n/a
39	chr2:233793088-233793138	HMEC	breast:	n/a
40	chr2:233793088-233793138	SK-N-SH	brain:	n/a
41	chr2:233791962-233792012	GM12892	blood:	n/a
42	chr2:233792732-233792782	ovcar-3	ovarian:	n/a
43	chr2:233793088-233793138	HIPEpiC	eye:	n/a
44	chr2:233793921-233793971	SK-N-MC	brain:	n/a
45	chr2:233792394-233792444	U87	brain:	n/a
46	chr2:233791962-233792012	Hela-S3	cervix:	n/a
47	chr2:233793311-233793361	AG09319	gingival:	n/a
48	chr2:233792732-233792782	GM19239	blood:	n/a
49	chr2:233792732-233792782	H1-hESC	embryonic stem cell:	embryo
50	chr2:233792732-233792782	PANC-1	pancreas:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:233792964..233795634-chr2:233797623..233799367,2	K562	blood:

Variant related genes	Relation type
NGEF	TF binding region
NGEF	CpG island

Extended variants
information (count: 71 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2675959	chr2:233791988-233791989	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs532576997	chr2:233791996-233791997	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181021966	chr2:233792026-233792027	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs62191809	chr2:233792038-233792039	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538488365	chr2:233792056-233792057	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550160175	chr2:233792073-233792074	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2675960	chr2:233792109-233792110	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs535956787	chr2:233792119-233792120	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552634659	chr2:233792123-233792124	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2944590	chr2:233792207-233792208	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs11893201	chr2:233792239-233792240	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs368042196	chr2:233792268-233792269	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575452500	chr2:233792294-233792295	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374135899	chr2:233792295-233792296	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561283462	chr2:233792323-233792324	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186431878	chr2:233792409-233792410	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2592118	chr2:233792425-233792426	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs113878180	chr2:233792443-233792444	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560567648	chr2:233792539-233792540	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2921705	chr2:233792565-233792566	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs552502959	chr2:233792588-233792589	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563049688	chr2:233792589-233792590	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531932123	chr2:233792594-233792595	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548437732	chr2:233792616-233792617	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566956183	chr2:233792651-233792652	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529619193	chr2:233792686-233792687	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191373913	chr2:233792962-233792963	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs181813160	chr2:233792963-233792964	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs186132169	chr2:233792972-233792973	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
30	rs190849619	chr2:233793036-233793037	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs538681674	chr2:233793055-233793056	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs558494636	chr2:233793076-233793077	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs111293641	chr2:233793082-233793083	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs116332744	chr2:233793103-233793104	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
35	rs367892936	chr2:233793113-233793114	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
36	rs572142763	chr2:233793142-233793143	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
37	rs73102769	chr2:233793211-233793212	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs574936701	chr2:233793351-233793352	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
39	rs371776226	chr2:233793357-233793358	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
40	rs540625083	chr2:233793367-233793368	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs554166446	chr2:233793432-233793433	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs577266164	chr2:233793464-233793465	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs546248814	chr2:233793482-233793483	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs142003403	chr2:233793489-233793490	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs11685503	chr2:233793517-233793518	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs542143063	chr2:233793524-233793525	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs183444905	chr2:233793533-233793534	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs529681582	chr2:233793538-233793539	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs72617189	chr2:233793554-233793555	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs566434991	chr2:233793564-233793565	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	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
Lung cancer	18438408	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
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	22429812	CNVD
Bladder cancer	21909424	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
prenatal diagnosis	22389664	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mental retardation	20152051	CNVD
Cancer	21183584	CNVD
Albright''s disease	22277900	CNVD
Brachydactyly-Mental Retardation Syndrome	22470819	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Colorectal cancer	19359472	CNVD
Autism	18414403	CNVD

Chromatin state (count:312 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233785000-233792000	Weak transcription	Gastric	stomach
2	chr2:233789800-233792000	Bivalent Enhancer	Fetal Intestine Large	intestine
3	chr2:233789800-233792400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr2:233789800-233793200	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr2:233790000-233792000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
6	chr2:233790000-233792200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
7	chr2:233790200-233792000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:233790400-233792200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
9	chr2:233790400-233792400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
10	chr2:233790600-233792400	Bivalent Enhancer	Placenta	Placenta
11	chr2:233791000-233792400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
12	chr2:233791000-233792400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
13	chr2:233791000-233792600	Bivalent Enhancer	Fetal Brain Male	brain
14	chr2:233791200-233792000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
15	chr2:233791200-233792000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
16	chr2:233791200-233792000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:233791200-233792000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr2:233791200-233792200	Bivalent Enhancer	Small Intestine	intestine
19	chr2:233791200-233792400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
20	chr2:233791200-233792400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
21	chr2:233791200-233792800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
22	chr2:233791200-233793400	Bivalent/Poised TSS	NHLF	lung
23	chr2:233791200-233793800	Bivalent Enhancer	Spleen	Spleen
24	chr2:233791400-233792000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr2:233791400-233792000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
26	chr2:233791400-233792000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
27	chr2:233791400-233792000	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
28	chr2:233791400-233792000	Flanking Active TSS	HSMM	muscle
29	chr2:233791400-233792200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:233791400-233792200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
31	chr2:233791400-233792200	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr2:233791400-233792200	Bivalent Enhancer	Adipose Nuclei	Adipose
33	chr2:233791400-233792200	Flanking Active TSS	Brain Angular Gyrus	brain
34	chr2:233791400-233792600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:233791400-233793000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
36	chr2:233791400-233793200	Weak transcription	Liver	Liver
37	chr2:233791400-233793600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr2:233791400-233793600	Bivalent Enhancer	Lung	lung
39	chr2:233791400-233794200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
40	chr2:233791600-233792000	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:233791600-233792000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
42	chr2:233791600-233792000	Bivalent Enhancer	Primary T cells from cord blood	blood
43	chr2:233791600-233792000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
44	chr2:233791600-233792000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:233791600-233792000	Flanking Active TSS	Brain Anterior Caudate	brain
46	chr2:233791600-233792000	Flanking Active TSS	Brain Cingulate Gyrus	brain
47	chr2:233791600-233792000	Bivalent Enhancer	Colonic Mucosa	Colon
48	chr2:233791600-233792000	Active TSS	Right Atrium	heart
49	chr2:233791600-233792200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr2:233791600-233792200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin

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