Variant report

Variant	nsv966766
Chromosome Location	chr7:26961781-26964055
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:26956940..26958702-chr7:26962220..26964835,2	K562	blood:
2	chr7:26957202..26958964-chr7:26963317..26964835,2	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140293844	chr7:26961844-26961845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201714762	chr7:26961911-26961912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566909839	chr7:26961947-26961948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535830051	chr7:26961956-26961957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188383248	chr7:26961979-26961980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575602316	chr7:26961982-26961983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377277250	chr7:26962046-26962047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371124831	chr7:26962081-26962082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551629562	chr7:26962114-26962115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539915684	chr7:26962117-26962118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559794278	chr7:26962123-26962124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181665260	chr7:26962196-26962197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542206104	chr7:26962197-26962198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571703801	chr7:26962206-26962207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143955339	chr7:26962225-26962226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185847390	chr7:26962237-26962238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144890823	chr7:26962276-26962277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570919554	chr7:26962290-26962291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs17436236	chr7:26962349-26962350	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs149043114	chr7:26962382-26962383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373776674	chr7:26962406-26962407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535894722	chr7:26962434-26962435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555759206	chr7:26962476-26962477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565865004	chr7:26962518-26962519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192047037	chr7:26962553-26962554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537722729	chr7:26962583-26962584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs774266	chr7:26962587-26962588	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs183983941	chr7:26962634-26962635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533988344	chr7:26962637-26962638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs60717891	chr7:26962649-26962650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370267274	chr7:26962669-26962670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187031149	chr7:26962717-26962718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573360310	chr7:26962718-26962719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542218323	chr7:26962719-26962720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562114574	chr7:26962743-26962744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs17436249	chr7:26962805-26962806	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs575906375	chr7:26962812-26962813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552486213	chr7:26962828-26962829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564781903	chr7:26962829-26962830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191128749	chr7:26962856-26962857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143385212	chr7:26962919-26962920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs17436256	chr7:26962957-26962958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529360761	chr7:26962995-26962996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549422310	chr7:26963044-26963045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79893248	chr7:26963052-26963053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376857324	chr7:26963144-26963145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551433324	chr7:26963192-26963193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536901366	chr7:26963203-26963204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs182109475	chr7:26963239-26963240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs13229517	chr7:26963243-26963244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17086460	CNVD
Breast cancer	18852474	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Cancer	17440070	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26957000-26962200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr7:26957400-26962400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr7:26960400-26969600	Weak transcription	NHEK	skin
4	chr7:26960800-26963400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:26961000-26962200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:26961400-26961800	Enhancers	HMEC	breast
7	chr7:26962200-26963200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:26963200-26963400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:26963400-26963600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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