Variant report

Variant	esv1007778
Chromosome Location	chr8:67288244-67290373
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 126 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550095452	chr8:67288277-67288278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7840745	chr8:67288294-67288295	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs368839097	chr8:67288304-67288305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552240525	chr8:67288331-67288332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566084556	chr8:67288339-67288340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146488672	chr8:67288363-67288364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555076702	chr8:67288364-67288365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs56140830	chr8:67288380-67288381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs10107527	chr8:67288408-67288409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531656164	chr8:67288446-67288447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs74669700	chr8:67288465-67288466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs386726306	chr8:67288474-67288475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs145670208	chr8:67288488-67288489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs79165201	chr8:67288494-67288495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs147356834	chr8:67288496-67288497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73691531	chr8:67288504-67288505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs201475541	chr8:67288516-67288517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10095576	chr8:67288532-67288533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs72505498	chr8:67288539-67288540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs10095867	chr8:67288567-67288568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs367905278	chr8:67288578-67288579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs111341046	chr8:67288602-67288603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs71247484	chr8:67288607-67288608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs36186375	chr8:67288608-67288609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs35814441	chr8:67288609-67288610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs36176334	chr8:67288619-67288620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs77857196	chr8:67288633-67288634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs78187261	chr8:67288636-67288637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs74918040	chr8:67288647-67288648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537290269	chr8:67288651-67288652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs75186821	chr8:67288679-67288680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs74766490	chr8:67288682-67288683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs78242902	chr8:67288703-67288704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs537831263	chr8:67288704-67288705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs76138588	chr8:67288720-67288721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557144313	chr8:67288728-67288729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373731456	chr8:67288733-67288734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs186439766	chr8:67288749-67288750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs190804930	chr8:67288750-67288751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs62511946	chr8:67288762-67288763	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs572042032	chr8:67288775-67288776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567943105	chr8:67288778-67288779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs79699940	chr8:67288780-67288781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs368974306	chr8:67288808-67288809	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113989672	chr8:67288836-67288837	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540747752	chr8:67288857-67288858	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs370460732	chr8:67288861-67288862	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373788789	chr8:67288869-67288870	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs529904528	chr8:67288888-67288889	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs201180287	chr8:67288893-67288894	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	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
Cancer	20164920	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
Salivary gland tumor	18059337	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
Acute myeloid leukemia	21251322	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
Colorectal cancer	16272173	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
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Adenoid cystic carcinoma	18332873	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67277000-67288800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:67281200-67290200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:67281400-67290400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:67288000-67288400	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr8:67288000-67288400	Enhancers	A549	lung
6	chr8:67288200-67289000	Enhancers	Placenta	Placenta
7	chr8:67288800-67291000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:67289000-67295000	Weak transcription	Placenta	Placenta
9	chr8:67290000-67291200	Enhancers	Brain Germinal Matrix	brain
10	chr8:67290000-67291400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr8:67290200-67291400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:67290200-67295800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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