Variant report

Variant	esv3373676
Chromosome Location	chr4:187475483-187478331
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	chr4:187476293-187476945	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr4:187475701-187476008	K562	blood:	n/a	n/a
3	BHLHE40	chr4:187475724-187475895	HepG2	liver:	n/a	n/a
4	BRCA1	chr4:187475689-187475898	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr4:187478309-187478548	HepG2	liver:	n/a	chr4:187478413-187478424
6	CEBPB	chr4:187476382-187476666	H1-hESC	embryonic stem cell:	n/a	n/a
7	CREB1	chr4:187476620-187476912	A549	lung:	n/a	n/a
8	CTBP2	chr4:187475979-187476923	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr4:187476299-187476316	NHEK	skin:	n/a	n/a
10	CTCF	chr4:187475760-187475910	HMF	breast:	n/a	chr4:187475819-187475832
11	CTCF	chr4:187475760-187475910	AG09319	gingival:	n/a	chr4:187475819-187475832
12	CTCF	chr4:187475703-187476001	H1-hESC	embryonic stem cell:	n/a	chr4:187475819-187475832
13	CTCF	chr4:187475770-187475891	Fibrobl	skin:	n/a	chr4:187475819-187475832
14	CTCF	chr4:187475846-187475849	MCF-7	breast:	n/a	n/a
15	CTCF	chr4:187476443-187477110	A549	lung:	n/a	chr4:187476681-187476699 chr4:187476682-187476698
16	CTCF	chr4:187476700-187476850	HCT-116	colon:	n/a	n/a
17	CTCF	chr4:187476636-187476908	A549	lung:	n/a	chr4:187476681-187476699 chr4:187476682-187476698
18	CTCF	chr4:187476758-187476772	Fibrobl	skin:	n/a	n/a
19	CTCF	chr4:187475787-187475890	MCF-7	breast:	n/a	chr4:187475819-187475832
20	CTCF	chr4:187475780-187475930	A549	lung:	n/a	chr4:187475819-187475832
21	CTCF	chr4:187476642-187476901	LNCaP	prostate:	n/a	chr4:187476681-187476699 chr4:187476682-187476698
22	CTCF	chr4:187476722-187476823	ProgFib	skin:	n/a	n/a
23	CTCF	chr4:187475700-187475850	HEEpiC	esophagus:	n/a	chr4:187475819-187475832
24	CTCF	chr4:187475700-187475850	AG09309	skin:	n/a	chr4:187475819-187475832
25	CTCF	chr4:187475820-187475970	HCM	heart:	n/a	n/a
26	CTCF	chr4:187475780-187475930	HEEpiC	esophagus:	n/a	chr4:187475819-187475832
27	CTCF	chr4:187475680-187475830	SK-N-SH_RA	brain:	n/a	n/a
28	CTCF	chr4:187475760-187475910	SAEC	small airway:	n/a	chr4:187475819-187475832
29	CTCF	chr4:187476860-187477010	HRE	kidney:	n/a	n/a
30	CTCF	chr4:187475740-187475890	HFF-Myc	foreskin:	n/a	chr4:187475819-187475832
31	CTCF	chr4:187475740-187475890	HRE	kidney:	n/a	chr4:187475819-187475832
32	CTCF	chr4:187476677-187476862	MCF-7	breast:	n/a	chr4:187476681-187476699 chr4:187476682-187476698
33	CTCF	chr4:187475740-187475890	RPTEC	kidney:	n/a	chr4:187475819-187475832
34	CTCF	chr4:187476700-187476850	HRE	kidney:	n/a	n/a
35	CTCF	chr4:187475800-187475950	HPAF	blood vessel:	n/a	chr4:187475819-187475832
36	CTCF	chr4:187475760-187475910	HBMEC	blood vessel:	n/a	chr4:187475819-187475832
37	CTCF	chr4:187476100-187476250	AG04449	skin:	n/a	n/a
38	CTCF	chr4:187475620-187475770	HCM	heart:	n/a	n/a
39	CTCF	chr4:187476640-187476790	RPTEC	kidney:	n/a	chr4:187476681-187476699 chr4:187476682-187476698
40	CTCF	chr4:187475760-187475910	HCT-116	colon:	n/a	chr4:187475819-187475832
41	CTCF	chr4:187475680-187475830	AG04450	lung:	n/a	n/a
42	CTCF	chr4:187476630-187476852	Kidney_OC	kidney:	n/a	chr4:187476681-187476699 chr4:187476682-187476698
43	CTCF	chr4:187476638-187476640	LNCaP	prostate:	n/a	n/a
44	CTCF	chr4:187475740-187475890	AG09309	skin:	n/a	chr4:187475819-187475832
45	CTCF	chr4:187475754-187475905	MCF-7	breast:	n/a	chr4:187475819-187475832
46	CTCF	chr4:187476699-187476829	MCF-7	breast:	n/a	n/a
47	CTCF	chr4:187475740-187475890	AG09319	gingival:	n/a	chr4:187475819-187475832
48	CTCF	chr4:187475752-187475930	H1-hESC	embryonic stem cell:	n/a	chr4:187475819-187475832
49	CTCF	chr4:187476620-187476770	A549	lung:	n/a	chr4:187476681-187476699 chr4:187476682-187476698
50	CTCF	chr4:187475740-187475890	HCPEpiC	choroid plexus:	n/a	chr4:187475819-187475832

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:187476326-187476376	RPTEC	kidney:	n/a
2	chr4:187476326-187476376	GM12878	blood:	n/a
3	chr4:187475891-187475941	BE2_C	brain:	n/a
4	chr4:187477065-187477115	Jurkat	blood:	n/a
5	chr4:187476326-187476376	RPTEC	kidney:	n/a
6	chr4:187476326-187476376	GM12878	blood:	n/a
7	chr4:187475891-187475941	BE2_C	brain:	n/a
8	chr4:187477065-187477115	Jurkat	blood:	n/a
9	chr4:187476573-187476623	HRPEpiC	eye:	n/a
10	chr4:187476837-187476887	LNCaP	prostate:	n/a
11	chr4:187476953-187477003	MCF-7	breast:	n/a
12	chr4:187475784-187475834	AG04449	skin:	fetal
13	chr4:187475669-187475719	HAEpiC	amniotic membrane:	n/a
14	chr4:187476455-187476505	SKMC	muscle:	n/a
15	chr4:187476326-187476376	MCF-7	breast:	n/a
16	chr4:187476569-187476619	HAEpiC	amniotic membrane:	n/a
17	chr4:187475841-187475891	NHBE	bronchial:	n/a
18	chr4:187476455-187476505	Hepatocyte	liver:	n/a
19	chr4:187476599-187476649	GM12878	blood:	n/a
20	chr4:187476455-187476505	HCF	heart:	n/a
21	chr4:187476837-187476887	GM06990	blood:	n/a
22	chr4:187475669-187475719	ovcar-3	ovarian:	n/a
23	chr4:187476953-187477003	ovcar-3	ovarian:	n/a
24	chr4:187475669-187475719	Hela-S3	cervix:	n/a
25	chr4:187476953-187477003	GM19239	blood:	n/a
26	chr4:187476608-187476658	Caco-2	colon:	n/a
27	chr4:187476599-187476649	ECC-1	luminal epithelium:	n/a
28	chr4:187475784-187475834	Hepatocyte	liver:	n/a
29	chr4:187476599-187476649	K562	blood:	n/a
30	chr4:187476326-187476376	NHBE	bronchial:	n/a
31	chr4:187476573-187476623	GM12891	blood:	n/a
32	chr4:187476543-187476593	HRPEpiC	eye:	n/a
33	chr4:187477310-187477360	GM19239	blood:	n/a
34	chr4:187476953-187477003	AG10803	skin:	n/a
35	chr4:187476569-187476619	GM06990	blood:	n/a
36	chr4:187476837-187476887	HCPEpiC	choroid plexus:	n/a
37	chr4:187477310-187477360	NH-A	brain:	n/a
38	chr4:187475669-187475719	GM12891	blood:	n/a
39	chr4:187476837-187476887	CMK	blood:	n/a
40	chr4:187476543-187476593	AG09309	skin:	n/a
41	chr4:187475784-187475834	Caco-2	colon:	n/a
42	chr4:187476608-187476658	HepG2	liver:	n/a
43	chr4:187477310-187477360	NT2-D1	testis:	n/a
44	chr4:187475669-187475719	AG04450	lung:	fetal
45	chr4:187476569-187476619	SK-N-MC	brain:	n/a
46	chr4:187476953-187477003	SKMC	muscle:	n/a
47	chr4:187476837-187476887	GM12892	blood:	n/a
48	chr4:187476455-187476505	PFSK-1	brain:	n/a
49	chr4:187475784-187475834	LNCaP	prostate:	n/a
50	chr4:187475669-187475719	GM19239	blood:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:187393785..187394637-chr4:187475328..187475950,2	MCF-7	breast:
2	chr4:187477233..187480575-chr4:187481254..187484237,4	K562	blood:

Variant related genes	Relation type
ENSG00000272297	TF binding region
MTNR1A	TF binding region
ENSG00000272297	CpG island
MTNR1A	CpG island

Extended variants
information (count: 84 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13147171	chr4:187475512-187475513	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs13147179	chr4:187475519-187475520	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs185520901	chr4:187475577-187475578	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs368275178	chr4:187475594-187475595	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs114905675	chr4:187475680-187475681	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs538060208	chr4:187475716-187475717	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs191224717	chr4:187475718-187475719	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs369594062	chr4:187475739-187475740	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs546263312	chr4:187475837-187475838	Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs181665605	chr4:187475852-187475853	Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs139677500	chr4:187475869-187475870	Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs538431171	chr4:187475873-187475874	Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs35762744	chr4:187475891-187475892	Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs556983688	chr4:187475908-187475909	Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs186847995	chr4:187475989-187475990	Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs544505909	chr4:187476002-187476003	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374564213	chr4:187476021-187476022	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192194036	chr4:187476044-187476045	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553187459	chr4:187476045-187476046	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183402414	chr4:187476054-187476055	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545321262	chr4:187476101-187476102	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143712585	chr4:187476136-187476137	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577932138	chr4:187476146-187476147	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543470519	chr4:187476153-187476154	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368549738	chr4:187476158-187476159	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529326030	chr4:187476175-187476176	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs549101709	chr4:187476179-187476180	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559512720	chr4:187476191-187476192	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs116903886	chr4:187476203-187476204	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs146810987	chr4:187476241-187476242	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs369445546	chr4:187476291-187476292	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374152717	chr4:187476335-187476336	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs1800885	chr4:187476360-187476361	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs144178215	chr4:187476365-187476366	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs199972565	chr4:187476368-187476369	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs567302325	chr4:187476455-187476456	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113749128	chr4:187476564-187476565	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
38	rs536341845	chr4:187476606-187476607	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
39	rs533316065	chr4:187476778-187476779	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs553152855	chr4:187476822-187476823	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs551776671	chr4:187476837-187476838	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
42	rs371805496	chr4:187476904-187476905	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs2119882	chr4:187476905-187476906	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs558784156	chr4:187476928-187476929	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs186621644	chr4:187476952-187476953	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs375633401	chr4:187477085-187477086	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
47	rs189887663	chr4:187477086-187477087	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
48	rs11730016	chr4:187477219-187477220	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs573739132	chr4:187477268-187477269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11721818	chr4:187477320-187477321	Weak transcription	CpG island	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16774939	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	17053054	CNVD
Facioscapulohumeral muscular dystrophy	21829175	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	20844748	CNVD
Autism	18414403	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Breast cancer	20409316	CNVD
Rhabdomyosarcoma	16790082	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Developmental delay	22127048	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cervical cancer	21063398	CNVD
Ependymoma	20639864	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:253 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187468800-187475800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:187475000-187475600	Active TSS	Duodenum Mucosa	Duodenum
3	chr4:187475000-187475600	Weak transcription	Pancreas	Pancrea
4	chr4:187475000-187475800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
5	chr4:187475000-187476200	Active TSS	Colonic Mucosa	Colon
6	chr4:187475000-187476800	Active TSS	Rectal Mucosa Donor 31	rectum
7	chr4:187475000-187476800	Active TSS	Rectal Smooth Muscle	rectum
8	chr4:187475000-187477000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
9	chr4:187475200-187475600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr4:187475200-187475600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
11	chr4:187475200-187475600	Active TSS	Sigmoid Colon	Sigmoid Colon
12	chr4:187475200-187476400	Bivalent Enhancer	Fetal Heart	heart
13	chr4:187475200-187476600	Bivalent/Poised TSS	Small Intestine	intestine
14	chr4:187475200-187477200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr4:187475400-187475600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
16	chr4:187475400-187475600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:187475400-187475600	Bivalent Enhancer	K562	blood
18	chr4:187475400-187475800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
19	chr4:187475400-187475800	Bivalent Enhancer	Stomach Mucosa	stomach
20	chr4:187475400-187475800	Flanking Active TSS	A549	lung
21	chr4:187475400-187476000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:187475400-187477000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:187475600-187475800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:187475600-187475800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
25	chr4:187475600-187475800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
26	chr4:187475600-187475800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
27	chr4:187475600-187475800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:187475600-187475800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr4:187475600-187475800	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
30	chr4:187475600-187475800	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr4:187475600-187475800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr4:187475600-187475800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr4:187475600-187475800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr4:187475600-187475800	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
35	chr4:187475600-187475800	Bivalent Enhancer	Brain Substantia Nigra	brain
36	chr4:187475600-187475800	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
37	chr4:187475600-187475800	Bivalent Enhancer	Fetal Lung	lung
38	chr4:187475600-187475800	Bivalent/Poised TSS	Placenta Amnion	Placenta Amnion
39	chr4:187475600-187475800	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
40	chr4:187475600-187475800	Enhancers	HMEC	breast
41	chr4:187475600-187475800	Bivalent/Poised TSS	K562	blood
42	chr4:187475600-187475800	Bivalent Enhancer	NHDF-Ad	bronchial
43	chr4:187475600-187476000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr4:187475600-187476000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
45	chr4:187475600-187476000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
46	chr4:187475600-187476000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr4:187475600-187476000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr4:187475600-187476000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr4:187475600-187476000	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
50	chr4:187475600-187476000	Bivalent Enhancer	Brain Germinal Matrix	brain

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