Variant report

Variant	nsv891179
Chromosome Location	chr8:90307652-90335826
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:90328134..90330530-chr8:90335776..90338151,2	MCF-7	breast:
2	chr8:90313557..90316348-chr8:90316997..90319764,3	MCF-7	breast:
3	chr8:90328134..90330530-chr8:90335776..90338151,2	MCF-7	breast:
4	chr8:90303214..90305766-chr8:90314670..90316709,2	MCF-7	breast:
5	chr8:90313557..90316348-chr8:90316997..90319764,3	MCF-7	breast:

Extended variants
information (count: 963 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:963 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529105954	chr8:90312404-90312405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs78153081	chr8:90312411-90312412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs4493948	chr8:90312475-90312476	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs183453245	chr8:90312476-90312477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551010590	chr8:90312498-90312499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375989662	chr8:90312515-90312516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566815587	chr8:90312526-90312527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534183226	chr8:90312544-90312545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556030014	chr8:90312586-90312587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs201438569	chr8:90312806-90312807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs200501126	chr8:90312807-90312808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs201857985	chr8:90312813-90312814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543999500	chr8:90312830-90312831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562241553	chr8:90312849-90312850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182770581	chr8:90312867-90312868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs111849150	chr8:90312873-90312874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79450329	chr8:90312889-90312890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566086336	chr8:90312927-90312928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs4380986	chr8:90312969-90312970	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs533748073	chr8:90313002-90313003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375040395	chr8:90313003-90313004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567986973	chr8:90313033-90313034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187692757	chr8:90313065-90313066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556754482	chr8:90313087-90313088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571877782	chr8:90313101-90313102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532859360	chr8:90313113-90313114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs373605962	chr8:90313187-90313188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539087023	chr8:90313197-90313198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs116074597	chr8:90313208-90313209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374702825	chr8:90313210-90313211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7010116	chr8:90313263-90313264	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs6986497	chr8:90313271-90313272	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs142965321	chr8:90313318-90313319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs191639045	chr8:90313357-90313358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544067496	chr8:90313378-90313379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs11989634	chr8:90313389-90313390	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs183833804	chr8:90313390-90313391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7818117	chr8:90313403-90313404	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs559833321	chr8:90313436-90313437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527278660	chr8:90313467-90313468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376484336	chr8:90313504-90313505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187021774	chr8:90313529-90313530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561411604	chr8:90313542-90313543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531988903	chr8:90313547-90313548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550496718	chr8:90313566-90313567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571839334	chr8:90313590-90313591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191965096	chr8:90313611-90313612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547895288	chr8:90313615-90313616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10106602	chr8:90313623-90313624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185225687	chr8:90313639-90313640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90312400-90312600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:90312800-90313400	Enhancers	Dnd41	blood
3	chr8:90313400-90314400	Weak transcription	Dnd41	blood
4	chr8:90314400-90314800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:90314400-90314800	Enhancers	Dnd41	blood
6	chr8:90314800-90318800	Weak transcription	Dnd41	blood
7	chr8:90318800-90320000	Enhancers	Dnd41	blood
8	chr8:90319200-90319800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr8:90319200-90321600	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr8:90319200-90321600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:90319400-90321600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:90319800-90321000	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr8:90320400-90320800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:90320400-90321600	Enhancers	Primary hematopoietic stem cells	blood
15	chr8:90320600-90321200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:90320600-90321400	Enhancers	NHEK	skin
17	chr8:90320600-90321600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:90320800-90321400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:90320800-90324800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr8:90321200-90325000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:90321400-90323400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:90321400-90324800	Weak transcription	NHEK	skin
23	chr8:90321600-90323400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:90321600-90324800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr8:90321600-90324800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr8:90321600-90325000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr8:90321600-90325200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr8:90323400-90323800	Enhancers	A549	lung
29	chr8:90323400-90326600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:90323400-90327600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:90323600-90323800	Enhancers	Fetal Kidney	kidney
32	chr8:90323800-90324800	Weak transcription	Fetal Kidney	kidney
33	chr8:90323800-90325400	Weak transcription	A549	lung
34	chr8:90324600-90327200	Enhancers	HUVEC	blood vessel
35	chr8:90324800-90325200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr8:90324800-90325200	Enhancers	NH-A	brain
37	chr8:90324800-90325400	Enhancers	Fetal Kidney	kidney
38	chr8:90324800-90325800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr8:90324800-90326600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr8:90324800-90326600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:90324800-90326800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr8:90324800-90327000	Enhancers	NHEK	skin
43	chr8:90325000-90325400	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr8:90325000-90326000	Enhancers	HMEC	breast
45	chr8:90325000-90326400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr8:90325000-90326600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:90325200-90325400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:90325200-90325600	Flanking Active TSS	NH-A	brain
49	chr8:90325200-90325800	Enhancers	Primary hematopoietic stem cells	blood
50	chr8:90325200-90326600	Enhancers	Muscle Satellite Cultured Cells	--

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