Variant report

Variant	nsv980212
Chromosome Location	chr4:69795048-69796475
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	JUN	chr4:69795081-69795427	HepG2	liver:	n/a	chr4:69795256-69795269
2	JUND	chr4:69795078-69795444	HepG2	liver:	n/a	n/a
3	MAFF	chr4:69794487-69795190	HepG2	liver:	n/a	chr4:69795001-69795019
4	MAFF	chr4:69794845-69795186	K562	blood:	n/a	chr4:69795001-69795019
5	MAFK	chr4:69794907-69795084	Hela-S3	cervix:	n/a	chr4:69795002-69795017
6	MAFK	chr4:69794497-69795199	HepG2	liver:	n/a	chr4:69795002-69795017
7	MAFK	chr4:69794823-69795192	IMR90	lung:	n/a	chr4:69795002-69795017
8	MAFK	chr4:69794889-69795146	H1-hESC	embryonic stem cell:	n/a	chr4:69795002-69795017
9	MAFK	chr4:69794840-69795175	K562	blood:	n/a	chr4:69795002-69795017
10	MAFK	chr4:69794400-69795191	HepG2	liver:	n/a	chr4:69795002-69795017
11	POLR2A	chr4:69795615-69795682	Gliobla	brain:	n/a	n/a
12	POLR2A	chr4:69796098-69796291	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000198277	TF binding region

Extended variants
information (count: 105 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3828504	chr4:69795061-69795062	Strong transcription Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs376744136	chr4:69795064-69795065	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs557914164	chr4:69795119-69795120	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs544782593	chr4:69795135-69795136	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs184756424	chr4:69795187-69795188	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs17147016	chr4:69795226-69795227	Strong transcription Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs559904093	chr4:69795264-69795265	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs573306825	chr4:69795313-69795314	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs542559706	chr4:69795322-69795323	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs3749514	chr4:69795359-69795360	Strong transcription Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs530849366	chr4:69795363-69795364	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs375797628	chr4:69795368-69795369	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs550542446	chr4:69795396-69795397	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs3749513	chr4:69795397-69795398	Strong transcription Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs528029790	chr4:69795400-69795401	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs533484439	chr4:69795403-69795404	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs150454944	chr4:69795439-69795440	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs188433059	chr4:69795450-69795451	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192868586	chr4:69795467-69795468	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372308435	chr4:69795496-69795497	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577068061	chr4:69795502-69795503	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375404573	chr4:69795505-69795506	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs3749512	chr4:69795507-69795508	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs367866016	chr4:69795531-69795532	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185390881	chr4:69795535-69795536	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189146523	chr4:69795550-69795551	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538108645	chr4:69795577-69795578	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557800068	chr4:69795592-69795593	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181810897	chr4:69795596-69795597	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369465306	chr4:69795606-69795607	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13128286	chr4:69795626-69795627	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs371586166	chr4:69795627-69795628	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs62641707	chr4:69795635-69795636	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375202222	chr4:69795648-69795649	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144454074	chr4:69795670-69795671	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369449006	chr4:69795691-69795692	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536795562	chr4:69795696-69795697	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs151025782	chr4:69795703-69795704	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373529001	chr4:69795704-69795705	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553189244	chr4:69795715-69795716	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140891830	chr4:69795728-69795729	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555670006	chr4:69795735-69795736	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112675774	chr4:69795744-69795745	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575556264	chr4:69795745-69795746	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs267600216	chr4:69795746-69795747	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200913424	chr4:69795761-69795762	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76146984	chr4:69795772-69795773	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564515965	chr4:69795820-69795821	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs3749511	chr4:69795871-69795872	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs137865339	chr4:69795882-69795883	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Multiple myeloma	16616336	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
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Graft versus host disease	20877625	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Osteoporosis	20877625	CNVD
Osteoporosis	19737800	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Glioblastoma multiforme	21138945	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69792400-69812600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr4:69793000-69797200	Strong transcription	Fetal Intestine Large	intestine
3	chr4:69793800-69797200	Strong transcription	HepG2	liver
4	chr4:69794200-69806200	Weak transcription	Fetal Intestine Small	intestine
5	chr4:69794600-69809400	Weak transcription	Pancreas	Pancrea
6	chr4:69794800-69796400	Strong transcription	Rectal Mucosa Donor 31	rectum
7	chr4:69794800-69796600	Strong transcription	Liver	Liver
8	chr4:69795000-69798000	Strong transcription	Duodenum Mucosa	Duodenum
9	chr4:69796400-69814400	Weak transcription	Rectal Mucosa Donor 31	rectum

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