Variant report

Variant	nsv963666
Chromosome Location	chr2:97702053-97706792
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	chr2:97703257-97703526	GM12878	blood:	n/a	chr2:97703363-97703374
2	BATF	chr2:97703210-97703532	GM12878	blood:	n/a	chr2:97703363-97703374
3	EP300	chr2:97702802-97703078	GM12878	blood:	n/a	n/a
4	MEF2A	chr2:97703209-97703641	GM12878	blood:	n/a	chr2:97703431-97703445 chr2:97703426-97703447
5	MEF2A	chr2:97703188-97703615	GM12878	blood:	n/a	chr2:97703431-97703445 chr2:97703426-97703447
6	POU2F2	chr2:97703300-97703585	GM12878	blood:	n/a	chr2:97703525-97703547 chr2:97703420-97703430 chr2:97703416-97703437 chr2:97703532-97703540 chr2:97703418-97703433 chr2:97703422-97703430 chr2:97703530-97703540 chr2:97703528-97703543 chr2:97703421-97703431 chr2:97703420-97703430 chr2:97703421-97703432
7	POU2F2	chr2:97703039-97703707	GM12891	blood:	n/a	chr2:97703525-97703547 chr2:97703420-97703430 chr2:97703416-97703437 chr2:97703532-97703540 chr2:97703418-97703433 chr2:97703422-97703430 chr2:97703530-97703540 chr2:97703528-97703543 chr2:97703421-97703431 chr2:97703420-97703430 chr2:97703421-97703432
8	POU2F2	chr2:97703174-97703697	GM12878	blood:	n/a	chr2:97703525-97703547 chr2:97703420-97703430 chr2:97703416-97703437 chr2:97703532-97703540 chr2:97703418-97703433 chr2:97703422-97703430 chr2:97703530-97703540 chr2:97703528-97703543 chr2:97703421-97703431 chr2:97703420-97703430 chr2:97703421-97703432
9	POU2F2	chr2:97703130-97703795	GM12891	blood:	n/a	chr2:97703525-97703547 chr2:97703420-97703430 chr2:97703416-97703437 chr2:97703532-97703540 chr2:97703418-97703433 chr2:97703422-97703430 chr2:97703530-97703540 chr2:97703528-97703543 chr2:97703421-97703431 chr2:97703420-97703430 chr2:97703421-97703432

Variant related genes	Relation type
ENSG00000236847	TF binding region
TRIM43CP	TF binding region

Extended variants
information (count: 61 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189377219	chr2:97702133-97702134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566790022	chr2:97702154-97702155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373062494	chr2:97702161-97702162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538231696	chr2:97702204-97702205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142972356	chr2:97702206-97702207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2707366	chr2:97702257-97702258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181021932	chr2:97702321-97702322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2707365	chr2:97702341-97702342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2707364	chr2:97702374-97702375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183862208	chr2:97702411-97702412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189366410	chr2:97702418-97702419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543789547	chr2:97702419-97702420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562375805	chr2:97702504-97702505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181924359	chr2:97702509-97702510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185921870	chr2:97702512-97702513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545847450	chr2:97702524-97702525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190141627	chr2:97702577-97702578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376335499	chr2:97702650-97702651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529630592	chr2:97702672-97702673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548275223	chr2:97702729-97702730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568253894	chr2:97702747-97702748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181334862	chr2:97702803-97702804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546799459	chr2:97702808-97702809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566623418	chr2:97702833-97702834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538940225	chr2:97702843-97702844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551846714	chr2:97702915-97702916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs2167577	chr2:97702917-97702918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs568872333	chr2:97702945-97702946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2167576	chr2:97702961-97702962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2167575	chr2:97703016-97703017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs2167574	chr2:97703025-97703026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs193048706	chr2:97703040-97703041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554690593	chr2:97703065-97703066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190969319	chr2:97703112-97703113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547773454	chr2:97703127-97703128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs202010346	chr2:97703207-97703208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534104974	chr2:97703214-97703215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554360345	chr2:97703237-97703238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182091327	chr2:97703247-97703248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113169122	chr2:97703256-97703257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs201131254	chr2:97703268-97703269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs202161663	chr2:97703277-97703278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1148600	chr2:97703284-97703285	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs376440064	chr2:97703319-97703320	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs562894312	chr2:97703353-97703354	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs185093883	chr2:97703381-97703382	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs115056730	chr2:97703418-97703419	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs12995874	chr2:97703419-97703420	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs561821709	chr2:97703428-97703429	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs527799473	chr2:97703561-97703562	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-small cell lung cancer	16651412	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97697400-97702800	Weak transcription	Primary B cells from peripheral blood	blood
2	chr2:97702800-97703800	Enhancers	Primary B cells from peripheral blood	blood
3	chr2:97703000-97704000	Enhancers	GM12878-XiMat	blood

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