Variant report

Variant	nsv972216
Chromosome Location	chr8:90066990-90071439
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:90067759..90070012-chr8:90070628..90073567,2	MCF-7	breast:
2	chr8:90067439..90070191-chr8:90075999..90077616,2	MCF-7	breast:
3	chr8:90067759..90070012-chr8:90070628..90073567,2	MCF-7	breast:

Extended variants
information (count: 155 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:155 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150678289	chr8:90067093-90067094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs79933079	chr8:90067095-90067096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139242273	chr8:90067119-90067120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs62532230	chr8:90067151-90067152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs180830341	chr8:90067163-90067164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113849709	chr8:90067222-90067223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540609998	chr8:90067241-90067242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34938859	chr8:90067270-90067271	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs11989778	chr8:90067276-90067277	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs375973371	chr8:90067297-90067298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10504871	chr8:90067319-90067320	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs530686398	chr8:90067367-90067368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570191248	chr8:90067378-90067379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184950383	chr8:90067379-90067380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10504872	chr8:90067395-90067396	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs13263593	chr8:90067426-90067427	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs115440295	chr8:90067449-90067450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2952472	chr8:90067455-90067456	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs10107115	chr8:90067473-90067474	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs6469759	chr8:90067487-90067488	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs143142899	chr8:90067499-90067500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2952471	chr8:90067508-90067509	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs4391478	chr8:90067523-90067524	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs558753259	chr8:90067530-90067531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1681397	chr8:90067616-90067617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555155160	chr8:90067617-90067618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs66925755	chr8:90067631-90067632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79618031	chr8:90067640-90067641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs5893072	chr8:90067641-90067642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540752201	chr8:90067679-90067680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1681396	chr8:90067726-90067727	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs529650907	chr8:90067729-90067730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541465987	chr8:90067739-90067740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563825977	chr8:90067740-90067741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531268945	chr8:90067783-90067784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552459893	chr8:90067795-90067796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571046595	chr8:90067839-90067840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370350790	chr8:90067841-90067842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs16890578	chr8:90067870-90067871	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs5893073	chr8:90067918-90067919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs397730298	chr8:90067919-90067920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374323221	chr8:90067920-90067921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377022154	chr8:90067921-90067922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149983702	chr8:90067988-90067989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144203759	chr8:90067989-90067990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557351619	chr8:90067990-90067991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569837872	chr8:90068024-90068025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537369540	chr8:90068039-90068040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189803107	chr8:90068130-90068131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576632513	chr8:90068189-90068190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Breast cancer	21611746	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Renal cell carcinoma	21215367	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90060200-90083200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:90069800-90070200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:90070200-90071400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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