Variant report

Variant	esv1829390
Chromosome Location	chr1:62931632-62997573
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	ARID3A	chr1:62974871-62975190	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:62982221-62982850	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:62980657-62981059	HepG2	liver:	n/a	n/a
4	ARID3A	chr1:62989615-62989964	HepG2	liver:	n/a	n/a
5	ARID3A	chr1:62973945-62974173	HepG2	liver:	n/a	n/a
6	BHLHE40	chr1:62950836-62951069	GM12878	blood:	n/a	n/a
7	BRCA1	chr1:62946907-62946932	HepG2	liver:	n/a	n/a
8	CEBPB	chr1:62980710-62981042	HepG2	liver:	n/a	chr1:62980975-62980988
9	CEBPB	chr1:62996933-62997061	K562	blood:	n/a	chr1:62996990-62997003 chr1:62996992-62997003
10	CEBPB	chr1:62980770-62980944	HepG2	liver:	n/a	n/a
11	CEBPB	chr1:62994992-62995140	HepG2	liver:	n/a	chr1:62995098-62995109
12	CEBPB	chr1:62980702-62981066	ECC-1	luminal epithelium:	n/a	chr1:62980975-62980988
13	CEBPB	chr1:62950244-62950277	HepG2	liver:	n/a	chr1:62950255-62950266
14	CEBPB	chr1:62994942-62995264	HepG2	liver:	n/a	chr1:62995098-62995109
15	CEBPB	chr1:62950230-62950343	K562	blood:	n/a	chr1:62950255-62950266
16	CEBPB	chr1:62973427-62973476	A549	lung:	n/a	chr1:62973429-62973442
17	CTCF	chr1:62973960-62974110	HA-sp	spinal cord:	n/a	chr1:62974024-62974045 chr1:62974026-62974033 chr1:62974023-62974039 chr1:62974022-62974040
18	CTCF	chr1:62947057-62947090	Gliobla	brain:	n/a	chr1:62947069-62947085 chr1:62947073-62947081
19	CTCF	chr1:62973920-62974070	HCFaa	heart:	n/a	chr1:62974024-62974045 chr1:62974026-62974033 chr1:62974023-62974039 chr1:62974022-62974040
20	CTCF	chr1:62973860-62974010	NHLF	lung:	n/a	n/a
21	CTCF	chr1:62973600-62973750	HEEpiC	esophagus:	n/a	n/a
22	CTCF	chr1:62974040-62974190	NHLF	lung:	n/a	n/a
23	CTCF	chr1:62996320-62996470	HRE	kidney:	n/a	n/a
24	CTCF	chr1:62973960-62974110	HCPEpiC	choroid plexus:	n/a	chr1:62974024-62974045 chr1:62974026-62974033 chr1:62974023-62974039 chr1:62974022-62974040
25	CTCF	chr1:62973980-62974130	HRPEpiC	eye:	n/a	chr1:62974024-62974045 chr1:62974026-62974033 chr1:62974023-62974039 chr1:62974022-62974040
26	CTCF	chr1:62996320-62996470	GM12875	blood:	n/a	n/a
27	CTCF	chr1:62973914-62974112	SK-N-SH_RA	brain:	n/a	chr1:62974024-62974045 chr1:62974026-62974033 chr1:62974023-62974039 chr1:62974022-62974040
28	CTCF	chr1:62973940-62974090	AG04450	lung:	n/a	chr1:62974024-62974045 chr1:62974026-62974033 chr1:62974023-62974039 chr1:62974022-62974040
29	CTCF	chr1:62972320-62972470	HepG2	liver:	n/a	n/a
30	CTCF	chr1:62996280-62996430	GM12868	blood:	n/a	n/a
31	CTCF	chr1:62996280-62996430	GM12865	blood:	n/a	n/a
32	CTCF	chr1:62973960-62974110	HFF	foreskin:	n/a	chr1:62974024-62974045 chr1:62974026-62974033 chr1:62974023-62974039 chr1:62974022-62974040
33	CTCF	chr1:62973980-62974130	HPAF	blood vessel:	n/a	chr1:62974024-62974045 chr1:62974026-62974033 chr1:62974023-62974039 chr1:62974022-62974040
34	CTCF	chr1:62973828-62974289	HCT-116	colon:	n/a	chr1:62974024-62974045 chr1:62974026-62974033 chr1:62974231-62974239 chr1:62974023-62974039 chr1:62974022-62974040
35	CTCF	chr1:62973380-62973530	HPAF	blood vessel:	n/a	n/a
36	CTCF	chr1:62947000-62947150	HEK293	kidney:	n/a	chr1:62947069-62947085 chr1:62947073-62947081
37	CTCF	chr1:62973905-62974129	GM10266	blood:	n/a	chr1:62974024-62974045 chr1:62974026-62974033 chr1:62974023-62974039 chr1:62974022-62974040
38	CTCF	chr1:62973907-62974133	GM13977	blood:	n/a	chr1:62974024-62974045 chr1:62974026-62974033 chr1:62974023-62974039 chr1:62974022-62974040
39	CTCF	chr1:62996300-62996450	A549	lung:	n/a	n/a
40	CTCF	chr1:62996320-62996470	HCPEpiC	choroid plexus:	n/a	n/a
41	CTCF	chr1:62996280-62996430	AG09319	gingival:	n/a	n/a
42	CTCF	chr1:62973980-62974130	BJ	skin:	n/a	chr1:62974024-62974045 chr1:62974026-62974033 chr1:62974023-62974039 chr1:62974022-62974040
43	CTCF	chr1:62973900-62974050	NHEK	skin:	n/a	chr1:62974024-62974045 chr1:62974026-62974033 chr1:62974023-62974039 chr1:62974022-62974040
44	CTCF	chr1:62996300-62996450	NHDF-neo	bronchial:	n/a	n/a
45	CTCF	chr1:62973909-62974135	LNCaP	prostate:	n/a	chr1:62974024-62974045 chr1:62974026-62974033 chr1:62974023-62974039 chr1:62974022-62974040
46	CTCF	chr1:62996320-62996470	HPF	lung:	n/a	n/a
47	CTCF	chr1:62973340-62973490	AG10803	skin:	n/a	n/a
48	CTCF	chr1:62973930-62974139	Pancreas_OC	pancreas:	n/a	chr1:62974024-62974045 chr1:62974026-62974033 chr1:62974023-62974039 chr1:62974022-62974040
49	CTCF	chr1:62996251-62996514	Kidney_OC	kidney:	n/a	n/a
50	CTCF	chr1:62996280-62996430	GM12873	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:62953857-62953907	Jurkat	blood:	n/a
2	chr1:62953857-62953907	GM12891	blood:	n/a
3	chr1:62953857-62953907	NH-A	brain:	n/a
4	chr1:62953857-62953907	IMR90	lung:	fetal
5	chr1:62953857-62953907	GM12878	blood:	n/a
6	chr1:62953857-62953907	HAEpiC	amniotic membrane:	n/a
7	chr1:62953857-62953907	PANC-1	pancreas:	n/a
8	chr1:62953857-62953907	HRCEpiC	kidney:	n/a
9	chr1:62953857-62953907	HEK293	kidney:	embryo
10	chr1:62953857-62953907	HRE	kidney:	n/a
11	chr1:62953857-62953907	HCF	heart:	n/a
12	chr1:62953857-62953907	BE2_C	brain:	n/a
13	chr1:62953857-62953907	SK-N-MC	brain:	n/a
14	chr1:62953857-62953907	HCM	heart:	n/a
15	chr1:62953857-62953907	GM06990	blood:	n/a
16	chr1:62953857-62953907	AG04450	lung:	fetal
17	chr1:62953857-62953907	AG04449	skin:	fetal
18	chr1:62953857-62953907	SKMC	muscle:	n/a
19	chr1:62953857-62953907	AoSMC	blood vessel:	n/a
20	chr1:62953857-62953907	AG09319	gingival:	n/a
21	chr1:62953857-62953907	NHBE	bronchial:	n/a
22	chr1:62953857-62953907	HepG2	liver:	n/a
23	chr1:62953857-62953907	SAEC	small airway:	n/a
24	chr1:62953857-62953907	LNCaP	prostate:	n/a
25	chr1:62953857-62953907	HL-60	blood:	n/a
26	chr1:62953857-62953907	U87	brain:	n/a
27	chr1:62953857-62953907	PrEC	prostate:	n/a
28	chr1:62953857-62953907	HEEpiC	esophagus:	n/a
29	chr1:62953857-62953907	CMK	blood:	n/a
30	chr1:62953857-62953907	HUVEC	blood vessel:	n/a
31	chr1:62953857-62953907	RPTEC	kidney:	n/a
32	chr1:62953857-62953907	HMEC	breast:	n/a
33	chr1:62953857-62953907	PFSK-1	brain:	n/a
34	chr1:62953857-62953907	NT2-D1	testis:	n/a
35	chr1:62953857-62953907	AG09309	skin:	n/a
36	chr1:62953857-62953907	HPAEpiC	pulmonary alveolar:	n/a
37	chr1:62953857-62953907	ProgFib	skin:	n/a
38	chr1:62953857-62953907	H1-hESC	embryonic stem cell:	embryo
39	chr1:62953857-62953907	T-47D	breast:	n/a
40	chr1:62953857-62953907	AG10803	skin:	n/a
41	chr1:62953857-62953907	Hepatocyte	liver:	n/a
42	chr1:62953857-62953907	Hela-S3	cervix:	n/a
43	chr1:62953857-62953907	K562	blood:	n/a
44	chr1:62953857-62953907	HNPCEpiC	eye:	n/a
45	chr1:62953857-62953907	BJ	skin:	n/a
46	chr1:62953857-62953907	HRPEpiC	eye:	n/a
47	chr1:62953857-62953907	HIPEpiC	eye:	n/a
48	chr1:62953857-62953907	SK-N-SH	brain:	n/a
49	chr1:62953857-62953907	GM19239	blood:	n/a
50	chr1:62953857-62953907	SK-N-SH_RA	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:62981414..62983590-chr1:62987870..62990210,2	K562	blood:
2	chr1:62945259..62948292-chr1:62948478..62951331,3	K562	blood:
3	chr1:62981414..62983590-chr1:62987870..62990210,2	K562	blood:
4	chr1:62956362..62957936-chr1:62958074..62960377,2	K562	blood:
5	chr1:62973586..62974447-chr1:63211951..63212865,4	K562	blood:
6	chr1:62903526..62905902-chr1:62994645..62996175,2	K562	blood:
7	chr1:62901602..62904086-chr1:62967299..62969350,2	MCF-7	breast:
8	chr1:62901585..62903674-chr1:62993916..62996899,2	MCF-7	breast:
9	chr1:62917044..62918978-chr1:62973057..62975934,2	K562	blood:
10	chr1:62929093..62931138-chr1:62937429..62939832,2	K562	blood:
11	chr1:62945259..62948292-chr1:62948478..62951331,3	K562	blood:
12	chr1:62956362..62957936-chr1:62958074..62960377,2	K562	blood:
13	chr1:62941072..62943901-chr1:62947529..62950113,2	K562	blood:
14	chr1:62988619..62991313-chr1:63249394..63251247,2	K562	blood:
15	chr1:62952987..62955181-chr1:62956845..62959940,3	K562	blood:
16	chr1:62952987..62955181-chr1:62956845..62959940,3	K562	blood:
17	chr1:62969372..62971801-chr1:62973889..62975552,2	MCF-7	breast:
18	chr1:62991617..62994213-chr1:63008583..63010942,2	K562	blood:
19	chr1:62996451..62998625-chr1:63013165..63014900,2	K562	blood:
20	chr1:62969372..62971801-chr1:62973889..62975552,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANGPTL3-1	chr1:62996307-62996544	NONHSAT003633

Variant related genes	Relation type
DOCK7	TF binding region
ENSG00000270549	TF binding region
DOCK7	CpG island
ENSG00000270549	CpG island
ENSG00000125703	chromatin interactions
ENSG00000116641	chromatin interactions
ENSG00000162607	chromatin interactions

Extended variants
information (count: 2156 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:2156 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1167998	chr1:62931632-62931633	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
2	rs375646123	chr1:62931663-62931664	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556847604	chr1:62931769-62931770	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575310712	chr1:62931803-62931804	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112290332	chr1:62931865-62931866	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563819372	chr1:62931868-62931869	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572552160	chr1:62931878-62931879	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539835491	chr1:62931883-62931884	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568086430	chr1:62931892-62931893	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562415826	chr1:62932013-62932014	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149529166	chr1:62932022-62932023	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79685303	chr1:62932036-62932037	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111247990	chr1:62932083-62932084	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533543246	chr1:62932096-62932097	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs117553046	chr1:62932098-62932099	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77264444	chr1:62932099-62932100	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78390856	chr1:62932103-62932104	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77907749	chr1:62932120-62932121	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549059045	chr1:62932124-62932125	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148653998	chr1:62932126-62932127	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371330851	chr1:62932158-62932159	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535350717	chr1:62932170-62932171	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557203096	chr1:62932305-62932306	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs568741658	chr1:62932314-62932315	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs142189086	chr1:62932329-62932330	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs557472074	chr1:62932340-62932341	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs572564448	chr1:62932408-62932409	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs183085121	chr1:62932414-62932415	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs532738878	chr1:62932431-62932432	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs574292173	chr1:62932449-62932450	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs530776166	chr1:62932493-62932494	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs544613156	chr1:62932526-62932527	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs563192215	chr1:62932546-62932547	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs1167999	chr1:62932555-62932556	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs375458784	chr1:62932601-62932602	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs147378251	chr1:62932612-62932613	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs560569753	chr1:62932615-62932616	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs188010183	chr1:62932688-62932689	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs549372392	chr1:62932735-62932736	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs78356780	chr1:62932780-62932781	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs145014681	chr1:62932800-62932801	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs147552708	chr1:62932801-62932802	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs1168000	chr1:62932815-62932816	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs543715930	chr1:62932865-62932866	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs557484165	chr1:62932940-62932941	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs190889940	chr1:62932948-62932949	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs182360806	chr1:62933058-62933059	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs555426197	chr1:62933189-62933190	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs573601946	chr1:62933207-62933208	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141979798	chr1:62933215-62933216	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Breast cancer	16620391	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
CNS Malformation Syndrome	17530927	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Colorectal cancer	20459617	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1316 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62904200-62940000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:62909800-62977000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:62910200-62936000	Weak transcription	Aorta	Aorta
4	chr1:62911600-62938000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:62914400-62935400	Weak transcription	Brain Substantia Nigra	brain
6	chr1:62915400-62940800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr1:62915400-62966600	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr1:62915800-62937000	Weak transcription	Esophagus	oesophagus
9	chr1:62916000-62940800	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr1:62916000-62977200	Weak transcription	Right Ventricle	heart
11	chr1:62916200-62960000	Weak transcription	Spleen	Spleen
12	chr1:62916200-62963200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr1:62916400-62936000	Weak transcription	Left Ventricle	heart
14	chr1:62916400-62940800	Weak transcription	Fetal Heart	heart
15	chr1:62916400-62941400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:62916600-62935800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr1:62916600-62937000	Weak transcription	Colonic Mucosa	Colon
18	chr1:62916600-62976600	Weak transcription	Psoas Muscle	Psoas
19	chr1:62916800-62935800	Weak transcription	Colon Smooth Muscle	Colon
20	chr1:62917000-62941200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:62917200-62940800	Weak transcription	NHEK	skin
22	chr1:62917400-62940200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr1:62918800-62950000	Weak transcription	GM12878-XiMat	blood
24	chr1:62918800-62950800	Weak transcription	K562	blood
25	chr1:62919000-62959200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr1:62919400-62935800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:62919400-62935800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr1:62919400-62937000	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr1:62919400-62940800	Weak transcription	NHLF	lung
30	chr1:62919800-62937000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:62920000-62936200	Weak transcription	Gastric	stomach
32	chr1:62920000-62937000	Weak transcription	Pancreas	Pancrea
33	chr1:62920000-62971000	Weak transcription	Thymus	Thymus
34	chr1:62920000-62980200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr1:62920200-62934800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr1:62920600-62932000	Weak transcription	Fetal Kidney	kidney
37	chr1:62920600-62936000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr1:62920600-62939600	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr1:62921000-62936000	Weak transcription	Primary B cells from cord blood	blood
40	chr1:62921200-62935600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr1:62921400-62940000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr1:62921800-62934400	Weak transcription	Brain Hippocampus Middle	brain
43	chr1:62921800-62935400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr1:62922200-62940800	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr1:62922400-62935600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr1:62922600-62937600	Weak transcription	HMEC	breast
47	chr1:62922600-62982000	Weak transcription	A549	lung
48	chr1:62923200-62938400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr1:62923200-62979200	Weak transcription	Fetal Thymus	thymus
50	chr1:62923400-62938400	Weak transcription	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links