Variant report

Variant	esv2762752
Chromosome Location	chr8:79178614-79194047
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35583505	chr8:79182469-79182470	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573381611	chr8:79182477-79182478	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs540900720	chr8:79182514-79182515	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs565475159	chr8:79182555-79182556	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs575919680	chr8:79182567-79182568	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs147783123	chr8:79182632-79182633	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs544153915	chr8:79182665-79182666	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs529483055	chr8:79182675-79182676	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs189276600	chr8:79182683-79182684	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs530098740	chr8:79182711-79182712	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs34500915	chr8:79182723-79182724	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs143098044	chr8:79182758-79182759	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs560271414	chr8:79182771-79182772	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs527526016	chr8:79182855-79182856	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs552435750	chr8:79182896-79182897	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs2116069	chr8:79182913-79182914	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs186566356	chr8:79182922-79182923	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs549759762	chr8:79182944-79182945	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs568080703	chr8:79182960-79182961	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs535517023	chr8:79182989-79182990	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs535134399	chr8:79183093-79183094	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs553614904	chr8:79183098-79183099	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs189445209	chr8:79183116-79183117	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs556695934	chr8:79183141-79183142	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs575236616	chr8:79183144-79183145	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs545481506	chr8:79183215-79183216	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs376836020	chr8:79183221-79183222	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs11989300	chr8:79183267-79183268	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs544612743	chr8:79183279-79183280	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs564830939	chr8:79183308-79183309	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs577082752	chr8:79183310-79183311	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs566177204	chr8:79192015-79192016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs17486452	chr8:79192016-79192017	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs558319348	chr8:79192046-79192047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111326807	chr8:79192071-79192072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs1864579	chr8:79192127-79192128	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs567111942	chr8:79192133-79192134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs142039847	chr8:79193434-79193435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549241352	chr8:79193458-79193459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536303858	chr8:79193542-79193543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs13278146	chr8:79193545-79193546	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs193199367	chr8:79193574-79193575	Enhancers	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
Acute myeloid leukemia	21251322	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:79182400-79183400	Active TSS	Fetal Heart	heart
2	chr8:79192000-79192200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:79193400-79193600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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