Variant report

Variant	nsv947876
Chromosome Location	chr10:42680580-42682116
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	BATF	chr10:42681054-42681429	GM12878	blood:	n/a	n/a
2	BATF	chr10:42681006-42681427	GM12878	blood:	n/a	n/a
3	BCL11A	chr10:42681018-42681251	GM12878	blood:	n/a	n/a
4	BCL11A	chr10:42680920-42681123	GM12878	blood:	n/a	n/a
5	BCL11A	chr10:42681257-42681446	GM12878	blood:	n/a	n/a
6	EBF1	chr10:42681243-42681627	GM12878	blood:	n/a	n/a
7	EBF1	chr10:42681063-42681306	GM12878	blood:	n/a	n/a
8	EBF1	chr10:42681742-42681974	GM12878	blood:	n/a	n/a
9	EP300	chr10:42681000-42681186	GM12878	blood:	n/a	n/a
10	EP300	chr10:42680550-42680726	GM12878	blood:	n/a	n/a
11	EP300	chr10:42680454-42681875	GM12878	blood:	n/a	chr10:42681470-42681484
12	FOSL2	chr10:42680474-42680955	HepG2	liver:	n/a	chr10:42680528-42680537 chr10:42680735-42680746
13	FOSL2	chr10:42680966-42681350	HepG2	liver:	n/a	n/a
14	FOSL2	chr10:42682045-42682351	HepG2	liver:	n/a	chr10:42682195-42682206
15	FOSL2	chr10:42680730-42681032	HepG2	liver:	n/a	chr10:42680735-42680746
16	FOXA1	chr10:42681015-42681341	HepG2	liver:	n/a	n/a
17	GABPA	chr10:42680777-42680892	Hela-S3	cervix:	n/a	n/a
18	GABPA	chr10:42680542-42681596	Hela-S3	cervix:	n/a	n/a
19	GABPA	chr10:42680555-42680738	Hela-S3	cervix:	n/a	n/a
20	GABPA	chr10:42681037-42681324	Hela-S3	cervix:	n/a	n/a
21	GABPA	chr10:42681640-42681961	Hela-S3	cervix:	n/a	n/a
22	HEY1	chr10:42680881-42681164	K562	blood:	n/a	n/a
23	IRF4	chr10:42680665-42682016	GM12878	blood:	n/a	n/a
24	IRF4	chr10:42680917-42681442	GM12878	blood:	n/a	n/a
25	JUND	chr10:42680493-42680688	HepG2	liver:	n/a	chr10:42680528-42680537
26	JUND	chr10:42681684-42681868	HepG2	liver:	n/a	n/a
27	JUND	chr10:42681158-42681421	HepG2	liver:	n/a	chr10:42681363-42681375
28	JUND	chr10:42680724-42681039	HepG2	liver:	n/a	chr10:42680735-42680746
29	JUND	chr10:42680554-42680675	HepG2	liver:	n/a	n/a
30	JUND	chr10:42681889-42682085	HepG2	liver:	n/a	n/a
31	PAX5	chr10:42680963-42681188	GM12878	blood:	n/a	n/a
32	PAX5	chr10:42681646-42682066	GM12878	blood:	n/a	n/a
33	PAX5	chr10:42680511-42681443	GM12878	blood:	n/a	n/a
34	PAX5	chr10:42680557-42680717	GM12878	blood:	n/a	n/a
35	PAX5	chr10:42680444-42682060	GM12878	blood:	n/a	n/a
36	PBX3	chr10:42681379-42681556	GM12878	blood:	n/a	n/a
37	PBX3	chr10:42680531-42680720	GM12878	blood:	n/a	n/a
38	PBX3	chr10:42681687-42681829	GM12878	blood:	n/a	n/a
39	POLR2A	chr10:42681319-42681644	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr10:42681733-42681945	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr10:42680561-42680729	H1-hESC	embryonic stem cell:	n/a	n/a
42	POU2F2	chr10:42680463-42682096	GM12878	blood:	n/a	chr10:42680485-42680498 chr10:42680666-42680680 chr10:42680778-42680790 chr10:42680478-42680499
43	RXRA	chr10:42681648-42682003	HepG2	liver:	n/a	n/a
44	RXRA	chr10:42681316-42681533	HepG2	liver:	n/a	n/a
45	RXRA	chr10:42680473-42681614	HepG2	liver:	n/a	n/a
46	RXRA	chr10:42681028-42681232	HepG2	liver:	n/a	n/a
47	SIX5	chr10:42680940-42681246	GM12878	blood:	n/a	n/a
48	SIX5	chr10:42680488-42680774	K562	blood:	n/a	chr10:42680533-42680547
49	SIX5	chr10:42680517-42680733	K562	blood:	n/a	chr10:42680533-42680547
50	SIX5	chr10:42680920-42681235	K562	blood:	n/a	n/a

Variant related genes	Relation type
IGKV1OR10-1	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573871089	chr10:42680604-42680605	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs9971230	chr10:42680605-42680606	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs9971231	chr10:42680622-42680623	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs542463059	chr10:42680627-42680628	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs79427939	chr10:42680635-42680636	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs562324205	chr10:42680663-42680664	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs9971182	chr10:42680669-42680670	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs9971232	chr10:42680673-42680674	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs575767428	chr10:42680674-42680675	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs76631038	chr10:42680691-42680692	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs9971200	chr10:42680708-42680709	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs4345917	chr10:42680722-42680723	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs527247086	chr10:42680739-42680740	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs4617540	chr10:42680745-42680746	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs58564410	chr10:42680756-42680757	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs4506596	chr10:42680768-42680769	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs9971253	chr10:42680774-42680775	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Obesity	20622171	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Lung cancer	21569311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
Autism	20531469	CNVD
small cell lung cancer	20016488	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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