Variant report

Variant	nsv520085
Chromosome Location	chr8:87034234-87041874
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:87035112..87036851-chr8:87038514..87041936,4	K562	blood:
2	chr8:87035737..87039088-chr8:87040580..87043413,3	MCF-7	breast:
3	chr8:87035112..87036851-chr8:87038514..87041936,4	K562	blood:
4	chr8:87035737..87039088-chr8:87040580..87043413,3	MCF-7	breast:

Extended variants
information (count: 307 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:307 , 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	rs11994068	chr8:87034234-87034235	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs140815213	chr8:87034235-87034236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs11994076	chr8:87034267-87034268	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs150144740	chr8:87034294-87034295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562061222	chr8:87034337-87034338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs116633062	chr8:87034356-87034357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375004660	chr8:87034400-87034401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138422319	chr8:87034430-87034431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141233374	chr8:87034460-87034461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533097347	chr8:87034623-87034624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372555691	chr8:87034637-87034638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1483767	chr8:87034725-87034726	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs528944253	chr8:87034728-87034729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1351776	chr8:87034770-87034771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371001014	chr8:87034804-87034805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548714079	chr8:87034835-87034836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565323307	chr8:87034843-87034844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534578691	chr8:87034869-87034870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs35536711	chr8:87034962-87034963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs397696587	chr8:87034966-87034967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563668442	chr8:87035003-87035004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551114501	chr8:87035086-87035087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571081727	chr8:87035136-87035137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs75353466	chr8:87035146-87035147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs556787371	chr8:87035175-87035176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536787539	chr8:87035176-87035177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7846370	chr8:87035290-87035291	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs182788329	chr8:87035294-87035295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373139908	chr8:87035296-87035297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs75833107	chr8:87035329-87035330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs541386814	chr8:87035341-87035342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs564326759	chr8:87035361-87035362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs115821419	chr8:87035368-87035369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543350412	chr8:87035376-87035377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs114080250	chr8:87035418-87035419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11995120	chr8:87035460-87035461	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs548784086	chr8:87035476-87035477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558998186	chr8:87035496-87035497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528180163	chr8:87035511-87035512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551319403	chr8:87035527-87035528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs137942916	chr8:87035603-87035604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540124603	chr8:87035613-87035614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550525283	chr8:87035650-87035651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200099685	chr8:87035662-87035663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536020663	chr8:87035674-87035675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556016385	chr8:87035706-87035707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575800476	chr8:87035749-87035750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs117498476	chr8:87035757-87035758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558122867	chr8:87035794-87035795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79765216	chr8:87035795-87035796	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
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
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
Autism	20841430	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	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

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87033000-87035000	Weak transcription	Ovary	ovary
2	chr8:87033600-87045800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:87034000-87048000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:87034200-87035400	Enhancers	Brain Hippocampus Middle	brain
5	chr8:87034600-87035400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:87034600-87035400	Enhancers	Brain Anterior Caudate	brain
7	chr8:87035000-87035200	Enhancers	Ovary	ovary
8	chr8:87036000-87037200	Enhancers	Placenta	Placenta
9	chr8:87036800-87037400	Enhancers	Adipose Nuclei	Adipose
10	chr8:87036800-87038000	Enhancers	Liver	Liver
11	chr8:87038200-87038800	Enhancers	Fetal Stomach	stomach
12	chr8:87040400-87041000	Enhancers	Primary neutrophils fromperipheralblood	blood

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