Variant report

Variant	nsv522543
Chromosome Location	chr8:85164821-85165783
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2130985	chr8:85164821-85164822	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs193206530	chr8:85164831-85164832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539084264	chr8:85164842-85164843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549320603	chr8:85164846-85164847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569874329	chr8:85164850-85164851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185581269	chr8:85164852-85164853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555282907	chr8:85164854-85164855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570922796	chr8:85164865-85164866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376760906	chr8:85164973-85164974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538028541	chr8:85164998-85164999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116937050	chr8:85165007-85165008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188610719	chr8:85165011-85165012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556351308	chr8:85165015-85165016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554346607	chr8:85165021-85165022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577401269	chr8:85165044-85165045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs372405140	chr8:85165151-85165152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs16912615	chr8:85165211-85165212	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs572186512	chr8:85165236-85165237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562870465	chr8:85165244-85165245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs531924116	chr8:85165247-85165248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7009763	chr8:85165258-85165259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569683764	chr8:85165285-85165286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs369383598	chr8:85165335-85165336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376448511	chr8:85165338-85165339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143868328	chr8:85165360-85165361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7009916	chr8:85165365-85165366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs150190341	chr8:85165378-85165379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372124387	chr8:85165386-85165387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574784652	chr8:85165394-85165395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs13263557	chr8:85165407-85165408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs13263566	chr8:85165412-85165413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs149378273	chr8:85165506-85165507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369611237	chr8:85165517-85165518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192992151	chr8:85165533-85165534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535716220	chr8:85165600-85165601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569594840	chr8:85165699-85165700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535390269	chr8:85165714-85165715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549305030	chr8:85165754-85165755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs10094547	chr8:85165783-85165784	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:100)

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

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:85156200-85166000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:85156200-85169400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:85161000-85165000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr8:85161000-85165800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr8:85161200-85165800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:85164600-85166400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr8:85164800-85165400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr8:85165000-85166200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr8:85165000-85167400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr8:85165400-85178000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr8:85165600-85166400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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