Variant report

Variant	nsv982138
Chromosome Location	chr8:79106680-79116734
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:79104657..79107348-chr8:79109253..79112104,2	K562	blood:
2	chr8:79115332..79117727-chr8:79126761..79129433,2	MCF-7	breast:
3	chr8:79104657..79107348-chr8:79109253..79112104,2	K562	blood:

Extended variants
information (count: 364 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:364 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111335926	chr8:79106716-79106717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs13254799	chr8:79106741-79106742	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs559681768	chr8:79106879-79106880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533181758	chr8:79106883-79106884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564676253	chr8:79106907-79106908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35711420	chr8:79106945-79106946	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs10089274	chr8:79106991-79106992	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs144351930	chr8:79107026-79107027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34294037	chr8:79107028-79107029	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs78361390	chr8:79107036-79107037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62517358	chr8:79107082-79107083	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs546607795	chr8:79107114-79107115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs17484756	chr8:79107179-79107180	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs140916595	chr8:79107206-79107207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs180784330	chr8:79107207-79107208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570592379	chr8:79107252-79107253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs35450290	chr8:79107270-79107271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs57484156	chr8:79107271-79107272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566442632	chr8:79107281-79107282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144623475	chr8:79107282-79107283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369306823	chr8:79107283-79107284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35579758	chr8:79107297-79107298	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs66482666	chr8:79107299-79107300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555891027	chr8:79107301-79107302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576663372	chr8:79107305-79107306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181218558	chr8:79107312-79107313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372661806	chr8:79107313-79107314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7836940	chr8:79107314-79107315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144350307	chr8:79107348-79107349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186820443	chr8:79107349-79107350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577928487	chr8:79107427-79107428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544957361	chr8:79107499-79107500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11780821	chr8:79107518-79107519	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs372240986	chr8:79107565-79107566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542789634	chr8:79107569-79107570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561115392	chr8:79107702-79107703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2369095	chr8:79107712-79107713	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs527515454	chr8:79107741-79107742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546865086	chr8:79107763-79107764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191552283	chr8:79107764-79107765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183857592	chr8:79107780-79107781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35272756	chr8:79107783-79107784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553798035	chr8:79107788-79107789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559322248	chr8:79107813-79107814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs3037488	chr8:79107863-79107864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs397692866	chr8:79107875-79107876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201869622	chr8:79107876-79107877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147800726	chr8:79107883-79107884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541846603	chr8:79107900-79107901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550566245	chr8:79107919-79107920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
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
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
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
Sezary syndrome	18413736	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
Colorectal cancer	19455253	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21990379	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:79106600-79109200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr8:79108000-79108200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:79108200-79108400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:79108200-79108400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr8:79108200-79108400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr8:79108200-79108400	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr8:79108200-79108400	Enhancers	Osteobl	bone
8	chr8:79108200-79108600	Enhancers	Fetal Lung	lung
9	chr8:79108200-79113000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:79108400-79109400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:79108400-79109400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:79108400-79109400	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr8:79108400-79109400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr8:79108400-79109400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr8:79108400-79109400	Weak transcription	Osteobl	bone
16	chr8:79108600-79109600	Weak transcription	Fetal Lung	lung
17	chr8:79109200-79110400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:79109400-79110000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:79109400-79110000	Enhancers	Hela-S3	cervix
20	chr8:79109400-79110800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:79109400-79111000	Enhancers	HSMM	muscle
22	chr8:79109400-79111400	Enhancers	Osteobl	bone
23	chr8:79109400-79112800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr8:79109400-79113000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr8:79109400-79113200	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr8:79109400-79113200	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr8:79109600-79110000	Enhancers	Fetal Lung	lung
28	chr8:79109600-79110000	Enhancers	HMEC	breast
29	chr8:79110000-79111200	Weak transcription	Hela-S3	cervix
30	chr8:79110000-79112000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:79110000-79112000	Weak transcription	HMEC	breast
32	chr8:79110400-79112200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:79110800-79112400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:79111200-79112400	Enhancers	Hela-S3	cervix
35	chr8:79111400-79111800	Weak transcription	Osteobl	bone
36	chr8:79111800-79112800	Enhancers	Osteobl	bone
37	chr8:79112000-79112400	Enhancers	HMEC	breast
38	chr8:79112000-79112600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr8:79112200-79112600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:79112400-79112600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr8:79112400-79120400	Weak transcription	Hela-S3	cervix
42	chr8:79112600-79113200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:79112600-79119000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr8:79112800-79118600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:79112800-79120000	Weak transcription	Osteobl	bone
46	chr8:79113000-79119800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr8:79113200-79118400	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr8:79113200-79118600	Weak transcription	Monocytes-CD14+_RO01746	blood

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