Variant report

Variant	nsv982105
Chromosome Location	chr8:85099137-85102143
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566952371	chr8:85099189-85099190	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs375135406	chr8:85099191-85099192	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs539184657	chr8:85099205-85099206	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs558672844	chr8:85099228-85099229	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs575546220	chr8:85099260-85099261	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs537873220	chr8:85099269-85099270	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs555207485	chr8:85099275-85099276	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs112799994	chr8:85099281-85099282	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs188708036	chr8:85099288-85099289	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs540404956	chr8:85099338-85099339	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs137910453	chr8:85099401-85099402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs60194646	chr8:85099462-85099463	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs545842789	chr8:85099475-85099476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562447139	chr8:85099479-85099480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs193218058	chr8:85099508-85099509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7009703	chr8:85099522-85099523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185639958	chr8:85099524-85099525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376664108	chr8:85099528-85099529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527615285	chr8:85099543-85099544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188752572	chr8:85099585-85099586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577661828	chr8:85099618-85099619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192263261	chr8:85099657-85099658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539257749	chr8:85099664-85099665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552610544	chr8:85099749-85099750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370753954	chr8:85099859-85099860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570350672	chr8:85099873-85099874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183979158	chr8:85099903-85099904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540696560	chr8:85099918-85099919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188660864	chr8:85099985-85099986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556391539	chr8:85100005-85100006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375295348	chr8:85100048-85100049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62528124	chr8:85100070-85100071	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs545470423	chr8:85100212-85100213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571911780	chr8:85100254-85100255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs578111860	chr8:85100326-85100327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372355000	chr8:85100370-85100371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546103692	chr8:85100371-85100372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs180808156	chr8:85100415-85100416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115600484	chr8:85100438-85100439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185955319	chr8:85100450-85100451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542627935	chr8:85100453-85100454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561716963	chr8:85100468-85100469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189267148	chr8:85100475-85100476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547677267	chr8:85100529-85100530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564392689	chr8:85100581-85100582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182217169	chr8:85100604-85100605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs60251697	chr8:85100607-85100608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560826931	chr8:85100635-85100636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs16912508	chr8:85100701-85100702	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs572315657	chr8:85100707-85100708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Acute monocytic leukemia	16498392	CNVD
Autism	20841430	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:85097600-85099400	Active TSS	Fetal Brain Female	brain
2	chr8:85098200-85099400	Active TSS	Fetal Intestine Large	intestine
3	chr8:85099000-85099400	Active TSS	Aorta	Aorta
4	chr8:85099000-85121000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr8:85099200-85099400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr8:85101000-85101200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr8:85101200-85101400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr8:85101200-85102000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr8:85101400-85101600	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr8:85102000-85102200	Enhancers	HUES6 Cell Line	embryonic stem cell

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