Variant report

Variant	nsv983714
Chromosome Location	chr13:62503799-62507339
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	CTCF	chr13:62505325-62505342	LNCaP	prostate:	n/a	n/a
2	JUND	chr13:62506331-62506333	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr13:62505340-62505508	GM12878	blood:	n/a	n/a
4	POLR2A	chr13:62505960-62506232	K562	blood:	n/a	n/a
5	SPI1	chr13:62506226-62506431	GM12878	blood:	n/a	n/a
6	TCF7L2	chr13:62504086-62505348	HEK293	kidney:	n/a	n/a
7	ZNF274	chr13:62504026-62504537	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000270856	TF binding region

Extended variants
information (count: 81 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10708167	chr13:62504031-62504032	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs398023057	chr13:62504034-62504035	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs139180461	chr13:62504045-62504046	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs539411930	chr13:62504068-62504069	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs532694188	chr13:62504119-62504120	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs77141549	chr13:62504152-62504153	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs146420967	chr13:62504175-62504176	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs181897476	chr13:62504200-62504201	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs140748883	chr13:62504221-62504222	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs371961044	chr13:62504263-62504264	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs560545734	chr13:62504286-62504287	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs528642190	chr13:62504337-62504338	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs552472781	chr13:62504339-62504340	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs184880483	chr13:62504357-62504358	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs546173755	chr13:62504409-62504410	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs4884404	chr13:62504410-62504411	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs189785951	chr13:62504505-62504506	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs534912709	chr13:62504506-62504507	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs549974621	chr13:62504518-62504519	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs182934826	chr13:62504529-62504530	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs548615030	chr13:62504536-62504537	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs568503811	chr13:62504549-62504550	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs537429308	chr13:62504567-62504568	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs529554901	chr13:62504643-62504644	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs546649283	chr13:62504701-62504702	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs60227683	chr13:62504702-62504703	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs397815230	chr13:62504711-62504712	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs547726262	chr13:62504712-62504713	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs557275349	chr13:62504723-62504724	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs566361343	chr13:62504753-62504754	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs7999333	chr13:62504780-62504781	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs201937913	chr13:62504819-62504820	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs111918744	chr13:62504853-62504854	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs569667456	chr13:62504861-62504862	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs147983242	chr13:62504903-62504904	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs375044844	chr13:62504904-62504905	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs186694429	chr13:62504914-62504915	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs376665805	chr13:62504922-62504923	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs150259308	chr13:62504971-62504972	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs191574318	chr13:62504981-62504982	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs183825650	chr13:62504990-62504991	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs116485794	chr13:62504992-62504993	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs77414217	chr13:62505009-62505010	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs145870858	chr13:62505010-62505011	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs187545508	chr13:62505032-62505033	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs564469299	chr13:62505063-62505064	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs576147383	chr13:62505072-62505073	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs539711268	chr13:62505108-62505109	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs148972341	chr13:62505167-62505168	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs192360266	chr13:62505175-62505176	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Lung cancer	18438408	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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