Variant report

Variant	esv3340343
Chromosome Location	chr3:87038787-87041635
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:272)
CpG islands
(count:979)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:272 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr3:87039602-87039769	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr3:87039995-87040601	H1-hESC	embryonic stem cell:	n/a	n/a
3	BRCA1	chr3:87040049-87041475	Hela-S3	cervix:	n/a	n/a
4	BRCA1	chr3:87040521-87040907	H1-hESC	embryonic stem cell:	n/a	n/a
5	BRCA1	chr3:87040096-87040320	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr3:87039259-87040932	Hela-S3	cervix:	n/a	chr3:87039403-87039415
7	CHD1	chr3:87034109-87041671	IMR90	lung:	n/a	n/a
8	CHD2	chr3:87039587-87039631	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD2	chr3:87039987-87040744	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD2	chr3:87039531-87040781	Hela-S3	cervix:	n/a	n/a
11	CHD2	chr3:87040099-87040344	HepG2	liver:	n/a	n/a
12	CREB1	chr3:87040069-87040660	H1-hESC	embryonic stem cell:	n/a	n/a
13	CREB1	chr3:87039992-87040724	H1-hESC	embryonic stem cell:	n/a	n/a
14	CREB1	chr3:87039716-87040721	A549	lung:	n/a	n/a
15	CTBP2	chr3:87039346-87040795	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr3:87039540-87039690	MCF-7	breast:	n/a	n/a
17	CTCF	chr3:87040380-87040530	HAc	cerebellar:	n/a	n/a
18	CTCF	chr3:87040400-87040550	HUVEC	blood vessel:	n/a	n/a
19	CTCF	chr3:87040566-87040567	NHEK	skin:	n/a	n/a
20	CTCF	chr3:87040420-87040570	HUVEC	blood vessel:	n/a	n/a
21	CTCF	chr3:87039520-87039670	HMEC	breast:	n/a	n/a
22	CTCF	chr3:87040380-87040530	HRE	kidney:	n/a	n/a
23	CTCF	chr3:87040422-87040491	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr3:87039642-87039730	Fibrobl	skin:	n/a	n/a
25	CTCF	chr3:87040380-87040530	HCFaa	heart:	n/a	n/a
26	CTCF	chr3:87040500-87040650	SAEC	small airway:	n/a	n/a
27	CTCF	chr3:87040640-87040790	A549	lung:	n/a	n/a
28	CTCF	chr3:87040460-87040597	MCF-7	breast:	n/a	n/a
29	CTCF	chr3:87040420-87040570	AG04449	skin:	n/a	n/a
30	CTCF	chr3:87039670-87039886	MCF-7	breast:	n/a	chr3:87039734-87039747
31	CTCF	chr3:87039580-87039730	BJ	skin:	n/a	n/a
32	CTCF	chr3:87040440-87040590	HFF-Myc	foreskin:	n/a	n/a
33	CTCF	chr3:87040560-87040565	NHEK	skin:	n/a	n/a
34	CTCF	chr3:87040440-87040590	NHEK	skin:	n/a	n/a
35	CTCF	chr3:87040520-87040670	Caco-2	colon:	n/a	n/a
36	CTCF	chr3:87039720-87039870	HBMEC	blood vessel:	n/a	chr3:87039734-87039747
37	CTCF	chr3:87040380-87040530	WI-38	lung:	n/a	n/a
38	CTCF	chr3:87040541-87040543	MCF-7	breast:	n/a	n/a
39	CTCF	chr3:87040460-87040610	HRE	kidney:	n/a	n/a
40	CTCF	chr3:87040400-87040550	HBMEC	blood vessel:	n/a	n/a
41	CTCF	chr3:87040519-87040539	Gliobla	brain:	n/a	n/a
42	CTCF	chr3:87039674-87039683	MCF-7	breast:	n/a	n/a
43	CTCF	chr3:87040480-87040630	HA-sp	spinal cord:	n/a	n/a
44	CTCF	chr3:87040653-87040654	Fibrobl	skin:	n/a	n/a
45	CTCF	chr3:87040400-87040550	AG04450	lung:	n/a	n/a
46	CTCF	chr3:87040600-87040750	Caco-2	colon:	n/a	n/a
47	CTCF	chr3:87040500-87040650	HMEC	breast:	n/a	n/a
48	CTCF	chr3:87040400-87040550	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr3:87040780-87040930	HPF	lung:	n/a	n/a
50	CTCF	chr3:87040360-87040510	NHDF-neo	bronchial:	n/a	n/a

(count:979 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:87040308-87040358	SK-N-SH_RA	brain:	n/a
2	chr3:87040269-87040319	ovcar-3	ovarian:	n/a
3	chr3:87040426-87040476	ovcar-3	ovarian:	n/a
4	chr3:87040308-87040358	SK-N-SH_RA	brain:	n/a
5	chr3:87040269-87040319	ovcar-3	ovarian:	n/a
6	chr3:87040426-87040476	ovcar-3	ovarian:	n/a
7	chr3:87039900-87039950	HIPEpiC	eye:	n/a
8	chr3:87039150-87039200	HL-60	blood:	n/a
9	chr3:87040709-87040759	ECC-1	luminal epithelium:	n/a
10	chr3:87039900-87039950	HRCEpiC	kidney:	n/a
11	chr3:87040269-87040319	Hepatocyte	liver:	n/a
12	chr3:87039687-87039737	AG09319	gingival:	n/a
13	chr3:87040640-87040690	HRCEpiC	kidney:	n/a
14	chr3:87040452-87040502	NB4	blood:	n/a
15	chr3:87039882-87039932	AG09309	skin:	n/a
16	chr3:87039620-87039670	Jurkat	blood:	n/a
17	chr3:87039536-87039586	NHDF-neo	bronchial:	n/a
18	chr3:87040286-87040336	IMR90	lung:	fetal
19	chr3:87039882-87039932	SAEC	small airway:	n/a
20	chr3:87039687-87039737	AoSMC	blood vessel:	n/a
21	chr3:87040640-87040690	NHBE	bronchial:	n/a
22	chr3:87040308-87040358	Hepatocyte	liver:	n/a
23	chr3:87039620-87039670	GM12892	blood:	n/a
24	chr3:87040739-87040789	BJ	skin:	n/a
25	chr3:87040640-87040690	SKMC	muscle:	n/a
26	chr3:87040426-87040476	HepG2	liver:	n/a
27	chr3:87040739-87040789	HCPEpiC	choroid plexus:	n/a
28	chr3:87040082-87040132	ProgFib	skin:	n/a
29	chr3:87039536-87039586	AG10803	skin:	n/a
30	chr3:87040082-87040132	HCF	heart:	n/a
31	chr3:87040452-87040502	HL-60	blood:	n/a
32	chr3:87040452-87040502	Hepatocyte	liver:	n/a
33	chr3:87039687-87039737	AG04449	skin:	fetal
34	chr3:87039536-87039586	PrEC	prostate:	n/a
35	chr3:87039900-87039950	ovcar-3	ovarian:	n/a
36	chr3:87039620-87039670	PANC-1	pancreas:	n/a
37	chr3:87040709-87040759	GM12891	blood:	n/a
38	chr3:87040709-87040759	HCF	heart:	n/a
39	chr3:87040082-87040132	NHBE	bronchial:	n/a
40	chr3:87040269-87040319	U87	brain:	n/a
41	chr3:87040082-87040132	HIPEpiC	eye:	n/a
42	chr3:87040452-87040502	Jurkat	blood:	n/a
43	chr3:87040286-87040336	HEEpiC	esophagus:	n/a
44	chr3:87038972-87039022	NT2-D1	testis:	n/a
45	chr3:87040739-87040789	PrEC	prostate:	n/a
46	chr3:87039900-87039950	IMR90	lung:	fetal
47	chr3:87039620-87039670	HEK293	kidney:	embryo
48	chr3:87039882-87039932	PFSK-1	brain:	n/a
49	chr3:87040640-87040690	Hela-S3	cervix:	n/a
50	chr3:87040739-87040789	GM06990	blood:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:47894761..47895633-chr3:87040588..87041313,2	Hela-S3	cervix:
2	chr3:87039890..87040592-chr6:34759297..34760271,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
VGLL3	TF binding region
VGLL3	CpG island
ENSG00000124201	chromatin interactions
ENSG00000177410	chromatin interactions
ENSG00000065060	chromatin interactions
ENSG00000209042	chromatin interactions

Extended variants
information (count: 89 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78787467	chr3:87038795-87038796	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs113471908	chr3:87038812-87038813	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs575748476	chr3:87038863-87038864	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs543240942	chr3:87038884-87038885	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs140404795	chr3:87038898-87038899	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs561505834	chr3:87038901-87038902	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs528781509	chr3:87038926-87038927	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs114289948	chr3:87038949-87038950	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs538619635	chr3:87038972-87038973	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs150367868	chr3:87038978-87038979	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs550609672	chr3:87039028-87039029	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs186138763	chr3:87039042-87039043	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs35945259	chr3:87039046-87039047	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs529783649	chr3:87039088-87039089	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs547971226	chr3:87039151-87039152	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs116482444	chr3:87039185-87039186	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs59701679	chr3:87039211-87039212	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs375967253	chr3:87039242-87039243	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs138041634	chr3:87039250-87039251	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs192347398	chr3:87039269-87039270	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs538662196	chr3:87039311-87039312	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs538131026	chr3:87039319-87039320	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs533530721	chr3:87039329-87039330	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs554854011	chr3:87039338-87039339	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs76559779	chr3:87039401-87039402	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs143581831	chr3:87039413-87039414	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs536778960	chr3:87039537-87039538	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs147075042	chr3:87039577-87039578	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs370575897	chr3:87039597-87039598	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs540893763	chr3:87039623-87039624	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs565448530	chr3:87039641-87039642	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs576725676	chr3:87039706-87039707	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs79619293	chr3:87039720-87039721	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs77950373	chr3:87039755-87039756	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs529724357	chr3:87039758-87039759	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs530813878	chr3:87039774-87039775	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs200626152	chr3:87039780-87039781	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs201606533	chr3:87039785-87039786	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
39	rs199952484	chr3:87039792-87039793	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs201001129	chr3:87039822-87039823	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs372258815	chr3:87039846-87039847	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs200637524	chr3:87039857-87039858	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs570654735	chr3:87039876-87039877	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs538181897	chr3:87039949-87039950	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs544566294	chr3:87039970-87039971	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs569303154	chr3:87039994-87039995	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs536716688	chr3:87040124-87040125	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs555116006	chr3:87040167-87040168	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs573434047	chr3:87040178-87040179	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs534132813	chr3:87040257-87040258	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	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
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD

Chromatin state (count:393 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:87016200-87039000	Weak transcription	Fetal Stomach	stomach
2	chr3:87017600-87039000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:87031600-87039600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr3:87032800-87039000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:87032800-87039200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:87033000-87041000	Active TSS	Placenta	Placenta
7	chr3:87033800-87041200	Active TSS	HSMMtube	muscle
8	chr3:87034800-87040600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr3:87035400-87041000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr3:87035600-87040600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr3:87035800-87041200	Active TSS	Ovary	ovary
12	chr3:87035800-87041400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr3:87036200-87038800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr3:87036200-87038800	Active TSS	Fetal Muscle Leg	muscle
15	chr3:87036200-87041000	Active TSS	Right Atrium	heart
16	chr3:87036800-87040600	Active TSS	NHLF	lung
17	chr3:87037000-87041000	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr3:87037000-87041200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr3:87037200-87040600	Active TSS	Placenta Amnion	Placenta Amnion
20	chr3:87037200-87040800	Active TSS	HSMM	muscle
21	chr3:87037200-87041000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:87037400-87039400	Active TSS	Fetal Muscle Trunk	muscle
23	chr3:87037400-87040600	Active TSS	Osteobl	bone
24	chr3:87037400-87040800	Active TSS	Muscle Satellite Cultured Cells	--
25	chr3:87037600-87039000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr3:87037600-87039000	Active TSS	Rectal Smooth Muscle	rectum
27	chr3:87037600-87039000	Active TSS	HMEC	breast
28	chr3:87037600-87039400	Active TSS	Adipose Nuclei	Adipose
29	chr3:87037600-87040800	Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr3:87037600-87040800	Active TSS	Hela-S3	cervix
31	chr3:87037600-87041200	Active TSS	Fetal Lung	lung
32	chr3:87038000-87039200	Flanking Active TSS	HUVEC	blood vessel
33	chr3:87038000-87039400	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr3:87038000-87041000	Active TSS	Aorta	Aorta
35	chr3:87038200-87039000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr3:87038200-87039800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr3:87038200-87041000	Active TSS	Colon Smooth Muscle	Colon
38	chr3:87038400-87039400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr3:87038400-87039400	Active TSS	Psoas Muscle	Psoas
40	chr3:87038400-87039800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
41	chr3:87038400-87039800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
42	chr3:87038400-87041000	Active TSS	Right Ventricle	heart
43	chr3:87038600-87038800	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr3:87038600-87039000	Active TSS	Stomach Smooth Muscle	stomach
45	chr3:87038600-87039600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
46	chr3:87038600-87039800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
47	chr3:87038600-87040600	Active TSS	NH-A	brain
48	chr3:87038600-87040800	Active TSS	A549	lung
49	chr3:87038600-87040800	Active TSS	NHDF-Ad	bronchial
50	chr3:87038600-87041000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links