Variant report

Variant	nsv982156
Chromosome Location	chr9:6164201-6171397
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:6163094..6165877-chr9:6167250..6170974,4	K562	blood:
2	chr9:6163920..6166108-chr9:6170937..6173147,2	MCF-7	breast:
3	chr13:43706108..43706705-chr9:6170816..6171542,2	MCF-7	breast:
4	chr9:6149075..6150608-chr9:6166608..6168151,2	MCF-7	breast:
5	chr9:6163920..6166108-chr9:6170937..6173147,2	MCF-7	breast:
6	chr9:6163094..6165877-chr9:6167250..6170974,4	K562	blood:
7	chr9:6163367..6165821-chr9:6169712..6171511,2	K562	blood:
8	chr9:6163367..6165821-chr9:6169712..6171511,2	K562	blood:

Extended variants
information (count: 333 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:333 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571364976	chr9:6164205-6164206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148526885	chr9:6164271-6164272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370058980	chr9:6164283-6164284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557005898	chr9:6164332-6164333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541942255	chr9:6164333-6164334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188266521	chr9:6164353-6164354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369509992	chr9:6164403-6164404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370490813	chr9:6164409-6164410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542930514	chr9:6164477-6164478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543995486	chr9:6164491-6164492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554547184	chr9:6164516-6164517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573026321	chr9:6164535-6164536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs16924068	chr9:6164596-6164597	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs113034140	chr9:6164597-6164598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190615407	chr9:6164598-6164599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182900212	chr9:6164600-6164601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187626127	chr9:6164649-6164650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142861076	chr9:6164650-6164651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547036660	chr9:6164653-6164654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374131768	chr9:6164654-6164655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192406655	chr9:6164664-6164665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548889598	chr9:6164671-6164672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567045486	chr9:6164723-6164724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527935068	chr9:6164753-6164754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116668957	chr9:6164769-6164770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7863536	chr9:6164771-6164772	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs538755207	chr9:6164773-6164774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557065145	chr9:6164794-6164795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545750983	chr9:6164805-6164806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568900012	chr9:6164806-6164807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376165744	chr9:6164847-6164848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535854149	chr9:6164889-6164890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554887727	chr9:6164923-6164924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150650798	chr9:6164952-6164953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184819809	chr9:6164976-6164977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs16924070	chr9:6164977-6164978	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs144873854	chr9:6164980-6164981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544319775	chr9:6164992-6164993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187334205	chr9:6165008-6165009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530150786	chr9:6165016-6165017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573906854	chr9:6165031-6165032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147943896	chr9:6165043-6165044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370872900	chr9:6165079-6165080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560453135	chr9:6165082-6165083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527988992	chr9:6165092-6165093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200345292	chr9:6165114-6165115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552870580	chr9:6165149-6165150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564691327	chr9:6165151-6165152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559447190	chr9:6165177-6165178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141865429	chr9:6165181-6165182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Disorders of sex development	21048976	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Metastatic melanoma	18483359	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	16783165	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:6160200-6173600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:6165600-6165800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr9:6165600-6166200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr9:6166200-6166400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr9:6166400-6166800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr9:6166600-6167000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr9:6166800-6167000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr9:6166800-6171000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr9:6168600-6168800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr9:6170600-6172000	Enhancers	Fetal Kidney	kidney
11	chr9:6170800-6172800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr9:6170800-6172800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr9:6171000-6171600	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr9:6171000-6172600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr9:6171000-6172800	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr9:6171000-6172800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr9:6171000-6172800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr9:6171000-6172800	Enhancers	NHDF-Ad	bronchial

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