Variant report

Variant	nsv971662
Chromosome Location	chr8:68493011-68494892
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	chr8:68487277..68489149-chr8:68492543..68494936,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141803986	chr8:68493026-68493027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187022481	chr8:68493074-68493075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs62513792	chr8:68493110-68493111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113610316	chr8:68493133-68493134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78078228	chr8:68493215-68493216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191458161	chr8:68493219-68493220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549130424	chr8:68493224-68493225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs10091234	chr8:68493236-68493237	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs547936567	chr8:68493250-68493251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537174922	chr8:68493259-68493260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116849771	chr8:68493304-68493305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs55883952	chr8:68493309-68493310	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs539401498	chr8:68493310-68493311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553308326	chr8:68493340-68493341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560563133	chr8:68493364-68493365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs74540427	chr8:68493424-68493425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs114489946	chr8:68493453-68493454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111584709	chr8:68493480-68493481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368629070	chr8:68493496-68493497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544740023	chr8:68493530-68493531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181201129	chr8:68493588-68493589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577972237	chr8:68493605-68493606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540205469	chr8:68493631-68493632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201876747	chr8:68493632-68493633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529575336	chr8:68493664-68493665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549242572	chr8:68493712-68493713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563141032	chr8:68493713-68493714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs57095373	chr8:68493719-68493720	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs550662375	chr8:68493763-68493764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570408702	chr8:68493776-68493777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185305924	chr8:68493851-68493852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547024479	chr8:68493876-68493877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566460911	chr8:68493907-68493908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149478066	chr8:68493933-68493934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535776038	chr8:68493942-68493943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555372121	chr8:68493947-68493948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568519437	chr8:68493950-68493951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139590782	chr8:68493953-68493954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs900899	chr8:68493987-68493988	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs377586843	chr8:68493997-68493998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558251789	chr8:68494021-68494022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189872447	chr8:68494111-68494112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529446566	chr8:68494121-68494122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs553775623	chr8:68494165-68494166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573693797	chr8:68494286-68494287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557495287	chr8:68494289-68494290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543344632	chr8:68494294-68494295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112699717	chr8:68494417-68494418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs448546	chr8:68494426-68494427	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs545247484	chr8:68494447-68494448	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	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
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
Salivary gland tumor	18059337	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
Acute myeloid leukemia	21251322	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
Colorectal cancer	16272173	CNVD
Melanoma	22183965	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
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
head and neck squamous cell carcinoma	16715129	CNVD
Prostate cancer	16461572	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:68490600-68493400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr8:68491400-68493400	Enhancers	Primary T cells fromperipheralblood	blood
3	chr8:68491800-68493200	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr8:68491800-68493200	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr8:68492000-68493200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr8:68492000-68493200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr8:68492000-68493200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr8:68492200-68493200	Enhancers	Primary T cells from cord blood	blood
9	chr8:68492200-68493200	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr8:68492200-68493400	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr8:68492400-68493200	Enhancers	GM12878-XiMat	blood
12	chr8:68492400-68493600	Enhancers	Dnd41	blood
13	chr8:68492600-68494400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:68492800-68493200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:68493400-68494000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr8:68494000-68494200	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr8:68494400-68495000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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