Variant report

Variant	esv3398465
Chromosome Location	chr3:50710948-50713996
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	chr3:50711747-50713161	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr3:50712323-50712549	K562	blood:	n/a	chr3:50712472-50712488
3	BHLHE40	chr3:50712228-50712595	HepG2	liver:	n/a	chr3:50712249-50712265 chr3:50712472-50712488
4	CCNT2	chr3:50712201-50712753	K562	blood:	n/a	n/a
5	CEBPB	chr3:50713410-50713629	K562	blood:	n/a	chr3:50713513-50713524
6	CEBPB	chr3:50713440-50713637	HepG2	liver:	n/a	chr3:50713513-50713524
7	CEBPB	chr3:50713258-50713955	H1-hESC	embryonic stem cell:	n/a	chr3:50713513-50713524
8	CTBP2	chr3:50711882-50712808	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr3:50712900-50713050	AG09319	gingival:	n/a	chr3:50712930-50712943 chr3:50712927-50712945 chr3:50712928-50712944
10	CTCF	chr3:50712890-50713011	Lung_OC	lung:	n/a	chr3:50712930-50712943 chr3:50712927-50712945 chr3:50712928-50712944
11	CTCF	chr3:50712811-50713059	GM19240	blood:	n/a	chr3:50712930-50712943 chr3:50712927-50712945 chr3:50712928-50712944
12	CTCF	chr3:50712920-50713070	HRE	kidney:	n/a	chr3:50712930-50712943 chr3:50712927-50712945 chr3:50712928-50712944
13	CTCF	chr3:50712920-50713070	HEEpiC	esophagus:	n/a	chr3:50712930-50712943 chr3:50712927-50712945 chr3:50712928-50712944
14	CTCF	chr3:50712940-50713090	SAEC	small airway:	n/a	n/a
15	CTCF	chr3:50712880-50713030	HMEC	breast:	n/a	chr3:50712930-50712943 chr3:50712927-50712945 chr3:50712928-50712944
16	CTCF	chr3:50712900-50713050	HPF	lung:	n/a	chr3:50712930-50712943 chr3:50712927-50712945 chr3:50712928-50712944
17	CTCF	chr3:50712873-50713025	GM13977	blood:	n/a	chr3:50712930-50712943 chr3:50712927-50712945 chr3:50712928-50712944
18	CTCF	chr3:50712864-50713003	LNCaP	prostate:	n/a	chr3:50712930-50712943 chr3:50712927-50712945 chr3:50712928-50712944
19	CTCF	chr3:50712511-50712521	GM10266	blood:	n/a	n/a
20	CTCF	chr3:50712880-50713030	Caco-2	colon:	n/a	chr3:50712930-50712943 chr3:50712927-50712945 chr3:50712928-50712944
21	CTCF	chr3:50712880-50713030	HCT-116	colon:	n/a	chr3:50712930-50712943 chr3:50712927-50712945 chr3:50712928-50712944
22	CTCF	chr3:50712905-50713023	MCF-7	breast:	n/a	chr3:50712930-50712943 chr3:50712927-50712945 chr3:50712928-50712944
23	CTCF	chr3:50712840-50712990	AG09309	skin:	n/a	chr3:50712930-50712943 chr3:50712927-50712945 chr3:50712928-50712944
24	CTCF	chr3:50712860-50713130	HFF	foreskin:	n/a	chr3:50712930-50712943 chr3:50712927-50712945 chr3:50712928-50712944
25	CTCF	chr3:50712860-50713010	GM12865	blood:	n/a	chr3:50712930-50712943 chr3:50712927-50712945 chr3:50712928-50712944
26	CTCF	chr3:50712440-50712590	GM12871	blood:	n/a	chr3:50712476-50712485 chr3:50712476-50712489
27	CTCF	chr3:50712782-50713067	MCF-7	breast:	n/a	chr3:50712787-50712800 chr3:50712930-50712943 chr3:50712927-50712945 chr3:50712928-50712944
28	CTCF	chr3:50712589-50712654	GM10266	blood:	n/a	n/a
29	CTCF	chr3:50712672-50712736	Spleen_OC	spleen:	n/a	n/a
30	CTCF	chr3:50712840-50712990	HBMEC	blood vessel:	n/a	chr3:50712930-50712943 chr3:50712927-50712945 chr3:50712928-50712944
31	CTCF	chr3:50712900-50713050	GM12865	blood:	n/a	chr3:50712930-50712943 chr3:50712927-50712945 chr3:50712928-50712944
32	CTCF	chr3:50712766-50713150	H1-hESC	embryonic stem cell:	n/a	chr3:50712787-50712800 chr3:50712930-50712943 chr3:50712927-50712945 chr3:50712928-50712944
33	CTCF	chr3:50712891-50713011	ProgFib	skin:	n/a	chr3:50712930-50712943 chr3:50712927-50712945 chr3:50712928-50712944
34	CTCF	chr3:50712462-50712533	GM13977	blood:	n/a	chr3:50712476-50712485 chr3:50712476-50712489
35	CTCF	chr3:50712400-50712550	GM12875	blood:	n/a	chr3:50712476-50712485 chr3:50712476-50712489
36	CTCF	chr3:50712880-50713030	BE2_C	brain:	n/a	chr3:50712930-50712943 chr3:50712927-50712945 chr3:50712928-50712944
37	CTCF	chr3:50712980-50713130	HRE	kidney:	n/a	n/a
38	CTCF	chr3:50712863-50713024	Pancreas_OC	pancreas:	n/a	chr3:50712930-50712943 chr3:50712927-50712945 chr3:50712928-50712944
39	CTCF	chr3:50712761-50713063	GM12891	blood:	n/a	chr3:50712787-50712800 chr3:50712930-50712943 chr3:50712927-50712945 chr3:50712928-50712944
40	CTCF	chr3:50712916-50712989	IMR90	lung:	n/a	chr3:50712930-50712943 chr3:50712927-50712945 chr3:50712928-50712944
41	CTCF	chr3:50712900-50713050	GM12874	blood:	n/a	chr3:50712930-50712943 chr3:50712927-50712945 chr3:50712928-50712944
42	CTCF	chr3:50712900-50713050	HEK293	kidney:	n/a	chr3:50712930-50712943 chr3:50712927-50712945 chr3:50712928-50712944
43	CTCF	chr3:50712794-50713028	GM20000	blood:	n/a	chr3:50712930-50712943 chr3:50712927-50712945 chr3:50712928-50712944
44	CTCF	chr3:50711960-50712110	WERI-Rb-1	eye:	n/a	n/a
45	CTCF	chr3:50712848-50713083	K562	blood:	n/a	chr3:50712930-50712943 chr3:50712927-50712945 chr3:50712928-50712944
46	CTCF	chr3:50712860-50713010	GM12866	blood:	n/a	chr3:50712930-50712943 chr3:50712927-50712945 chr3:50712928-50712944
47	CTCF	chr3:50712880-50713030	BJ	skin:	n/a	chr3:50712930-50712943 chr3:50712927-50712945 chr3:50712928-50712944
48	CTCF	chr3:50712900-50713050	NHEK	skin:	n/a	chr3:50712930-50712943 chr3:50712927-50712945 chr3:50712928-50712944
49	CTCF	chr3:50712900-50713050	HRPEpiC	eye:	n/a	chr3:50712930-50712943 chr3:50712927-50712945 chr3:50712928-50712944
50	CTCF	chr3:50712975-50713000	HUVEC	blood vessel:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:50712443-50712493	NHDF-neo	bronchial:	n/a
2	chr3:50712443-50712493	NHDF-neo	bronchial:	n/a
3	chr3:50711663-50711713	ovcar-3	ovarian:	n/a
4	chr3:50712096-50712146	GM12892	blood:	n/a
5	chr3:50711663-50711713	PFSK-1	brain:	n/a
6	chr3:50712443-50712493	HEEpiC	esophagus:	n/a
7	chr3:50711663-50711713	NHBE	bronchial:	n/a
8	chr3:50713087-50713137	AG04449	skin:	fetal
9	chr3:50712096-50712146	NH-A	brain:	n/a
10	chr3:50713006-50713056	HCPEpiC	choroid plexus:	n/a
11	chr3:50713006-50713056	HNPCEpiC	eye:	n/a
12	chr3:50712233-50712283	ProgFib	skin:	n/a
13	chr3:50713087-50713137	A549	lung:	n/a
14	chr3:50712096-50712146	GM12891	blood:	n/a
15	chr3:50712443-50712493	LNCaP	prostate:	n/a
16	chr3:50712233-50712283	LNCaP	prostate:	n/a
17	chr3:50713087-50713137	HepG2	liver:	n/a
18	chr3:50712233-50712283	NT2-D1	testis:	n/a
19	chr3:50713087-50713137	ProgFib	skin:	n/a
20	chr3:50712443-50712493	NHBE	bronchial:	n/a
21	chr3:50713006-50713056	GM12891	blood:	n/a
22	chr3:50712233-50712283	HRE	kidney:	n/a
23	chr3:50712443-50712493	MCF-7	breast:	n/a
24	chr3:50711663-50711713	Jurkat	blood:	n/a
25	chr3:50711663-50711713	AG10803	skin:	n/a
26	chr3:50712096-50712146	HL-60	blood:	n/a
27	chr3:50711663-50711713	H1-hESC	embryonic stem cell:	embryo
28	chr3:50713087-50713137	AG10803	skin:	n/a
29	chr3:50713006-50713056	AG04450	lung:	fetal
30	chr3:50712443-50712493	H1-hESC	embryonic stem cell:	embryo
31	chr3:50712443-50712493	PrEC	prostate:	n/a
32	chr3:50712096-50712146	ovcar-3	ovarian:	n/a
33	chr3:50711663-50711713	HMEC	breast:	n/a
34	chr3:50713006-50713056	RPTEC	kidney:	n/a
35	chr3:50712233-50712283	AG04450	lung:	fetal
36	chr3:50712096-50712146	SK-N-SH_RA	brain:	n/a
37	chr3:50713006-50713056	HIPEpiC	eye:	n/a
38	chr3:50713087-50713137	AG04450	lung:	fetal
39	chr3:50712443-50712493	HIPEpiC	eye:	n/a
40	chr3:50712233-50712283	MCF10A-Er-Src	breast:	n/a
41	chr3:50713087-50713137	MCF-7	breast:	n/a
42	chr3:50712096-50712146	BE2_C	brain:	n/a
43	chr3:50712096-50712146	RPTEC	kidney:	n/a
44	chr3:50712233-50712283	MCF-7	breast:	n/a
45	chr3:50712443-50712493	SK-N-MC	brain:	n/a
46	chr3:50712233-50712283	HUVEC	blood vessel:	n/a
47	chr3:50713006-50713056	HRCEpiC	kidney:	n/a
48	chr3:50713006-50713056	CMK	blood:	n/a
49	chr3:50713087-50713137	GM19239	blood:	n/a
50	chr3:50711663-50711713	GM12891	blood:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:50712677..50713421-chr3:50922505..50923533,3	MCF-7	breast:

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4787-5p	chr3:50712524-50712545	MIMAT0019956
hsa-miR-4787-3p	chr3:50712561-50712584	MIMAT0019957

Variant related genes	Relation type
DOCK3	TF binding region
MIR4787	TF binding region
DOCK3	CpG island
MIR4787	CpG island

Extended variants
information (count: 61 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540058526	chr3:50710972-50710973	Bivalent Enhancer Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs561977531	chr3:50710975-50710976	Bivalent Enhancer Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs34985176	chr3:50711001-50711002	Bivalent/Poised TSS Weak transcription	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs550521954	chr3:50711047-50711048	Bivalent/Poised TSS Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs73072416	chr3:50711073-50711074	Bivalent/Poised TSS Weak transcription	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs73072418	chr3:50711083-50711084	Bivalent/Poised TSS Weak transcription	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs549276760	chr3:50711130-50711131	Bivalent/Poised TSS Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs551104531	chr3:50711157-50711158	Bivalent/Poised TSS Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs113584899	chr3:50711164-50711165	Bivalent/Poised TSS Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs143946240	chr3:50711188-50711189	Bivalent/Poised TSS Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs546885867	chr3:50711402-50711403	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs568700112	chr3:50711427-50711428	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs535792126	chr3:50711518-50711519	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs184518206	chr3:50711545-50711546	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs148646741	chr3:50711584-50711585	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs370583017	chr3:50711587-50711588	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs539929382	chr3:50711606-50711607	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs528256145	chr3:50711637-50711638	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs558329689	chr3:50711724-50711725	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs546721791	chr3:50711738-50711739	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs540389610	chr3:50711750-50711751	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs9840476	chr3:50711758-50711759	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs573860684	chr3:50711787-50711788	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs188109438	chr3:50711791-50711792	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs562137177	chr3:50711919-50711920	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs181994075	chr3:50711953-50711954	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs376336399	chr3:50711972-50711973	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs559774178	chr3:50712025-50712026	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs527408135	chr3:50712131-50712132	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
30	rs9825283	chr3:50712159-50712160	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs568588975	chr3:50712168-50712169	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs529574472	chr3:50712179-50712180	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs571414124	chr3:50712224-50712225	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs528128590	chr3:50712225-50712226	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs569270703	chr3:50712305-50712306	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs539804439	chr3:50712318-50712319	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs538720550	chr3:50712765-50712766	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs558199237	chr3:50712770-50712771	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs566944071	chr3:50712867-50712868	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534061782	chr3:50712869-50712870	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555525892	chr3:50712893-50712894	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573797249	chr3:50712981-50712982	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544494807	chr3:50712995-50712996	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs73833239	chr3:50713088-50713089	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs577523557	chr3:50713096-50713097	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs544567711	chr3:50713160-50713161	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs200381957	chr3:50713212-50713213	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs527356368	chr3:50713217-50713218	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs56182336	chr3:50713276-50713277	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542392606	chr3:50713277-50713278	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Developmental delay	21147756	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cancer	20164919	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:382 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50687000-50712000	Weak transcription	Right Atrium	heart
2	chr3:50708800-50711400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr3:50709000-50711400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr3:50709000-50711600	Weak transcription	Pancreas	Pancrea
5	chr3:50709000-50711600	Weak transcription	Right Ventricle	heart
6	chr3:50709000-50711800	Weak transcription	Brain Hippocampus Middle	brain
7	chr3:50709000-50711800	Weak transcription	Esophagus	oesophagus
8	chr3:50709200-50711400	Weak transcription	Brain Angular Gyrus	brain
9	chr3:50709400-50711800	Weak transcription	HSMMtube	muscle
10	chr3:50710200-50711800	Weak transcription	HSMM	muscle
11	chr3:50710800-50711000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr3:50711000-50711600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr3:50711200-50711400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
14	chr3:50711200-50711600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
15	chr3:50711400-50711600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
16	chr3:50711400-50711600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
17	chr3:50711400-50711600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr3:50711400-50711600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
19	chr3:50711400-50711600	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr3:50711400-50711600	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr3:50711400-50711600	Enhancers	Brain Cingulate Gyrus	brain
22	chr3:50711400-50711600	Bivalent Enhancer	Fetal Brain Female	brain
23	chr3:50711400-50711600	Enhancers	Stomach Smooth Muscle	stomach
24	chr3:50711400-50711600	Flanking Bivalent TSS/Enh	NH-A	brain
25	chr3:50711400-50711800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr3:50711400-50711800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:50711400-50711800	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr3:50711400-50711800	Bivalent Enhancer	Fetal Muscle Leg	muscle
29	chr3:50711400-50712000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
30	chr3:50711400-50712000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
31	chr3:50711400-50712000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
32	chr3:50711400-50712000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
33	chr3:50711400-50712200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
34	chr3:50711400-50714000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr3:50711400-50714400	Active TSS	Brain Angular Gyrus	brain
36	chr3:50711400-50714400	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr3:50711600-50711800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
38	chr3:50711600-50711800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr3:50711600-50711800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr3:50711600-50711800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
41	chr3:50711600-50711800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
42	chr3:50711600-50711800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr3:50711600-50711800	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr3:50711600-50711800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr3:50711600-50711800	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr3:50711600-50711800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr3:50711600-50711800	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
48	chr3:50711600-50711800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr3:50711600-50711800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr3:50711600-50711800	Weak transcription	Brain Anterior Caudate	brain

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