Variant report

Variant	esv3373550
Chromosome Location	chr4:20252479-20255027
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	chr4:20254170-20254488	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr4:20254954-20255182	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr4:20253093-20253368	H1-hESC	embryonic stem cell:	n/a	n/a
4	BRCA1	chr4:20253739-20253744	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr4:20253475-20253672	Hela-S3	cervix:	n/a	n/a
6	CHD1	chr4:20253777-20253954	H1-hESC	embryonic stem cell:	n/a	n/a
7	CHD2	chr4:20254101-20254405	Hela-S3	cervix:	n/a	n/a
8	CHD2	chr4:20253545-20253717	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD2	chr4:20253125-20253331	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD2	chr4:20252935-20253747	Hela-S3	cervix:	n/a	n/a
11	CTBP2	chr4:20252818-20254039	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTBP2	chr4:20254251-20256981	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr4:20254060-20254210	HBMEC	blood vessel:	n/a	chr4:20254078-20254091
14	CTCF	chr4:20253340-20253490	AG04449	skin:	n/a	chr4:20253440-20253450
15	CTCF	chr4:20253318-20253564	Kidney_OC	kidney:	n/a	chr4:20253440-20253450
16	CTCF	chr4:20253462-20253516	Lung_OC	lung:	n/a	n/a
17	CTCF	chr4:20253780-20253930	SAEC	small airway:	n/a	n/a
18	CTCF	chr4:20253420-20253570	BE2_C	brain:	n/a	chr4:20253440-20253450
19	CTCF	chr4:20253280-20253430	WERI-Rb-1	eye:	n/a	n/a
20	CTCF	chr4:20254060-20254210	HUVEC	blood vessel:	n/a	chr4:20254078-20254091
21	CTCF	chr4:20253356-20253491	Spleen_OC	spleen:	n/a	chr4:20253440-20253450
22	CTCF	chr4:20253380-20253530	Caco-2	colon:	n/a	chr4:20253440-20253450
23	CTCF	chr4:20253340-20253490	AG04450	lung:	n/a	chr4:20253440-20253450
24	CTCF	chr4:20254120-20254270	HCFaa	heart:	n/a	chr4:20254201-20254214
25	CTCF	chr4:20253540-20253690	HA-sp	spinal cord:	n/a	n/a
26	CTCF	chr4:20253400-20253550	HMF	breast:	n/a	chr4:20253440-20253450
27	CTCF	chr4:20253360-20253510	AG04450	lung:	n/a	chr4:20253440-20253450
28	CTCF	chr4:20254048-20254097	MCF-7	breast:	n/a	chr4:20254078-20254091
29	CTCF	chr4:20253060-20253210	HPAF	blood vessel:	n/a	n/a
30	CTCF	chr4:20254040-20254190	AG10803	skin:	n/a	chr4:20254078-20254091
31	CTCF	chr4:20253300-20253450	HEEpiC	esophagus:	n/a	chr4:20253440-20253450
32	CTCF	chr4:20253200-20253350	BJ	skin:	n/a	n/a
33	CTCF	chr4:20254240-20254390	HVMF	connective:	n/a	n/a
34	CTCF	chr4:20253320-20253470	HBMEC	blood vessel:	n/a	chr4:20253440-20253450
35	CTCF	chr4:20253380-20253530	AG09319	gingival:	n/a	chr4:20253440-20253450
36	CTCF	chr4:20253360-20253510	HRPEpiC	eye:	n/a	chr4:20253440-20253450
37	CTCF	chr4:20253380-20253530	HCPEpiC	choroid plexus:	n/a	chr4:20253440-20253450
38	CTCF	chr4:20253380-20253530	AG04449	skin:	n/a	chr4:20253440-20253450
39	CTCF	chr4:20254080-20254230	AoAF	blood vessel:	n/a	chr4:20254201-20254214
40	CTCF	chr4:20254063-20254127	MCF-7	breast:	n/a	chr4:20254078-20254091
41	CTCF	chr4:20253380-20253530	HRE	kidney:	n/a	chr4:20253440-20253450
42	CTCF	chr4:20253340-20253490	AoAF	blood vessel:	n/a	chr4:20253440-20253450
43	CTCF	chr4:20254000-20254150	SAEC	small airway:	n/a	chr4:20254078-20254091
44	CTCF	chr4:20253382-20253443	NHEK	skin:	n/a	n/a
45	CTCF	chr4:20253280-20253430	HA-sp	spinal cord:	n/a	n/a
46	CTCF	chr4:20253400-20253550	HCPEpiC	choroid plexus:	n/a	chr4:20253440-20253450
47	CTCF	chr4:20254060-20254210	SK-N-SH_RA	brain:	n/a	chr4:20254078-20254091
48	CTCF	chr4:20253340-20253490	HRPEpiC	eye:	n/a	chr4:20253440-20253450
49	CTCF	chr4:20254080-20254230	AG04449	skin:	n/a	chr4:20254201-20254214
50	CTCF	chr4:20254200-20254350	AG04449	skin:	n/a	chr4:20254201-20254214

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:20253130-20253180	U87	brain:	n/a
2	chr4:20253130-20253180	AG09309	skin:	n/a
3	chr4:20254140-20254190	LNCaP	prostate:	n/a
4	chr4:20253277-20253327	SK-N-SH	brain:	n/a
5	chr4:20253922-20253972	ECC-1	luminal epithelium:	n/a
6	chr4:20254519-20254569	LNCaP	prostate:	n/a
7	chr4:20254140-20254190	BE2_C	brain:	n/a
8	chr4:20253595-20253645	AG04449	skin:	fetal
9	chr4:20253595-20253645	BE2_C	brain:	n/a
10	chr4:20253556-20253606	SK-N-SH	brain:	n/a
11	chr4:20254519-20254569	Hela-S3	cervix:	n/a
12	chr4:20253922-20253972	A549	lung:	n/a
13	chr4:20254140-20254190	MCF-7	breast:	n/a
14	chr4:20253595-20253645	HEK293	kidney:	embryo
15	chr4:20253277-20253327	Hepatocyte	liver:	n/a
16	chr4:20253130-20253180	T-47D	breast:	n/a
17	chr4:20253556-20253606	NHBE	bronchial:	n/a
18	chr4:20253277-20253327	BJ	skin:	n/a
19	chr4:20253922-20253972	SKMC	muscle:	n/a
20	chr4:20253277-20253327	HCF	heart:	n/a
21	chr4:20253514-20253564	AG09319	gingival:	n/a
22	chr4:20254140-20254190	SKMC	muscle:	n/a
23	chr4:20253277-20253327	HCM	heart:	n/a
24	chr4:20253130-20253180	ovcar-3	ovarian:	n/a
25	chr4:20253556-20253606	HCM	heart:	n/a
26	chr4:20254736-20254786	HCM	heart:	n/a
27	chr4:20254140-20254190	RPTEC	kidney:	n/a
28	chr4:20253595-20253645	HCM	heart:	n/a
29	chr4:20253595-20253645	HNPCEpiC	eye:	n/a
30	chr4:20254736-20254786	SK-N-SH	brain:	n/a
31	chr4:20253556-20253606	H1-hESC	embryonic stem cell:	embryo
32	chr4:20254140-20254190	Hepatocyte	liver:	n/a
33	chr4:20254519-20254569	GM19239	blood:	n/a
34	chr4:20253130-20253180	AG09319	gingival:	n/a
35	chr4:20253514-20253564	LNCaP	prostate:	n/a
36	chr4:20254519-20254569	GM06990	blood:	n/a
37	chr4:20253556-20253606	AG10803	skin:	n/a
38	chr4:20254519-20254569	HRE	kidney:	n/a
39	chr4:20254140-20254190	HEEpiC	esophagus:	n/a
40	chr4:20253922-20253972	AG10803	skin:	n/a
41	chr4:20254140-20254190	ovcar-3	ovarian:	n/a
42	chr4:20253556-20253606	Hela-S3	cervix:	n/a
43	chr4:20253556-20253606	HRE	kidney:	n/a
44	chr4:20253595-20253645	SAEC	small airway:	n/a
45	chr4:20253514-20253564	Hela-S3	cervix:	n/a
46	chr4:20253130-20253180	HepG2	liver:	n/a
47	chr4:20253514-20253564	HNPCEpiC	eye:	n/a
48	chr4:20253514-20253564	HL-60	blood:	n/a
49	chr4:20253277-20253327	ECC-1	luminal epithelium:	n/a
50	chr4:20253514-20253564	GM12878	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:20025908..20028659-chr4:20253195..20254796,2	MCF-7	breast:
2	chr4:20252097..20254985-chr4:20256141..20260392,5	MCF-7	breast:
3	chr4:20252458..20255013-chr4:20255238..20258452,3	MCF-7	breast:

Variant related genes	Relation type
SLIT2	TF binding region
SLIT2	CpG island
ENSG00000145147	chromatin interactions

Extended variants
information (count: 109 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530640796	chr4:20252483-20252484	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs548953888	chr4:20252536-20252537	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs73801486	chr4:20252538-20252539	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs565544300	chr4:20252539-20252540	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs567287822	chr4:20252598-20252599	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs534638007	chr4:20252604-20252605	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs547291769	chr4:20252619-20252620	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs554141940	chr4:20252633-20252634	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs538819767	chr4:20252640-20252641	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs191423873	chr4:20252646-20252647	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs575600558	chr4:20252685-20252686	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs536749725	chr4:20252688-20252689	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs534946840	chr4:20252718-20252719	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs555123760	chr4:20252778-20252779	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs147956935	chr4:20252803-20252804	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
16	rs11942988	chr4:20252822-20252823	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
17	rs552820341	chr4:20252877-20252878	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
18	rs372494458	chr4:20252904-20252905	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
19	rs532980617	chr4:20252909-20252910	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
20	rs573814738	chr4:20252967-20252968	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
21	rs577885555	chr4:20253064-20253065	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
22	rs182585688	chr4:20253088-20253089	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
23	rs563502085	chr4:20253135-20253136	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs530657975	chr4:20253173-20253174	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs141929355	chr4:20253191-20253192	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
26	rs542727027	chr4:20253221-20253222	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs186919485	chr4:20253226-20253227	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs528063801	chr4:20253253-20253254	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs546631932	chr4:20253306-20253307	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs145793884	chr4:20253327-20253328	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs375808450	chr4:20253336-20253337	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs532842935	chr4:20253348-20253349	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs551034891	chr4:20253358-20253359	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs538818944	chr4:20253369-20253370	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs369160292	chr4:20253414-20253415	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs536484173	chr4:20253432-20253433	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs191416714	chr4:20253433-20253434	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs12108308	chr4:20253438-20253439	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs536118904	chr4:20253476-20253477	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs533899751	chr4:20253531-20253532	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs558920930	chr4:20253539-20253540	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs182171531	chr4:20253545-20253546	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs545286798	chr4:20253550-20253551	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs557007048	chr4:20253556-20253557	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs575373173	chr4:20253559-20253560	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs188951117	chr4:20253565-20253566	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs560928272	chr4:20253568-20253569	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs528201622	chr4:20253582-20253583	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs540373974	chr4:20253617-20253618	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs377519735	chr4:20253618-20253619	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	17908972	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20249000-20252600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:20250200-20252600	Weak transcription	Brain Hippocampus Middle	brain
3	chr4:20250200-20252800	Weak transcription	HUVEC	blood vessel
4	chr4:20250200-20252800	Weak transcription	NHEK	skin
5	chr4:20250400-20252600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:20250400-20252600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr4:20250400-20252800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:20250400-20252800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr4:20250400-20252800	Weak transcription	Hela-S3	cervix
10	chr4:20250600-20252600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr4:20250600-20252800	Weak transcription	NHLF	lung
12	chr4:20251000-20252600	Enhancers	Osteobl	bone
13	chr4:20251400-20252600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr4:20252000-20252600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:20252000-20252600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:20252200-20252600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:20252200-20252600	Enhancers	Fetal Lung	lung
18	chr4:20252200-20252800	Enhancers	Brain Angular Gyrus	brain
19	chr4:20252200-20258200	Active TSS	NHDF-Ad	bronchial
20	chr4:20252400-20252600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:20252400-20252600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr4:20252400-20252600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:20252400-20252600	Enhancers	Duodenum Mucosa	Duodenum
24	chr4:20252400-20252800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:20252400-20252800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:20252400-20252800	Weak transcription	Fetal Muscle Leg	muscle
27	chr4:20252400-20252800	Weak transcription	Fetal Stomach	stomach
28	chr4:20252400-20253000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr4:20252400-20253000	Enhancers	Placenta Amnion	Placenta Amnion
30	chr4:20252400-20253000	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
31	chr4:20252400-20255200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
32	chr4:20252400-20256400	Active TSS	Brain Anterior Caudate	brain
33	chr4:20252400-20257000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
34	chr4:20252400-20257400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
35	chr4:20252600-20252800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
36	chr4:20252600-20252800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr4:20252600-20252800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr4:20252600-20252800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr4:20252600-20252800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr4:20252600-20252800	Enhancers	Adipose Nuclei	Adipose
41	chr4:20252600-20252800	Enhancers	Liver	Liver
42	chr4:20252600-20252800	Enhancers	Brain Cingulate Gyrus	brain
43	chr4:20252600-20252800	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr4:20252600-20252800	Enhancers	Fetal Brain Male	brain
45	chr4:20252600-20252800	Enhancers	Fetal Brain Female	brain
46	chr4:20252600-20252800	Enhancers	Fetal Heart	heart
47	chr4:20252600-20252800	Enhancers	Fetal Kidney	kidney
48	chr4:20252600-20252800	Active TSS	Fetal Lung	lung
49	chr4:20252600-20252800	Enhancers	NH-A	brain
50	chr4:20252600-20252800	Flanking Active TSS	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links