Variant report

Variant	esv1011202
Chromosome Location	chr8:131844314-131853745
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 328 )
Associated
traits (count: 138 )

Variant overlapped rSNPs/rCNVs (count:328 , 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	rs139881357	chr8:131844325-131844326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73342467	chr8:131844326-131844327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527768700	chr8:131844327-131844328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552259659	chr8:131844332-131844333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369036612	chr8:131844424-131844425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186553480	chr8:131844433-131844434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11777206	chr8:131844434-131844435	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs567729540	chr8:131844503-131844504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs430659	chr8:131844517-131844518	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs536184265	chr8:131844525-131844526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192260147	chr8:131844526-131844527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201691553	chr8:131844580-131844581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572112907	chr8:131844581-131844582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528549767	chr8:131844645-131844646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369857754	chr8:131844686-131844687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539500339	chr8:131844700-131844701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377690034	chr8:131844705-131844706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs151015803	chr8:131844733-131844734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182766170	chr8:131844742-131844743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543620738	chr8:131844770-131844771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73342469	chr8:131844809-131844810	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs377593656	chr8:131844859-131844860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370437634	chr8:131844861-131844862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547038934	chr8:131844867-131844868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540965157	chr8:131844961-131844962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560072756	chr8:131844988-131844989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140811173	chr8:131845010-131845011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552224910	chr8:131845029-131845030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527522358	chr8:131845058-131845059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374619253	chr8:131845075-131845076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564619687	chr8:131845083-131845084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34346024	chr8:131845108-131845109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547268347	chr8:131845123-131845124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373086489	chr8:131845136-131845137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185889640	chr8:131845157-131845158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150149816	chr8:131845168-131845169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191214499	chr8:131845209-131845210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113066573	chr8:131845300-131845301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548119245	chr8:131845317-131845318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145501264	chr8:131845351-131845352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187443085	chr8:131845356-131845357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114214048	chr8:131845365-131845366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140313806	chr8:131845395-131845396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145232209	chr8:131845438-131845439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555527842	chr8:131845459-131845460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs76566998	chr8:131845512-131845513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540877352	chr8:131845516-131845517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112148611	chr8:131845517-131845518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572074240	chr8:131845548-131845549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533299651	chr8:131845571-131845572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:138)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	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	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
Acute myeloid leukemia	20729466	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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Malignant melanoma	17260012	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Sezary syndrome	18413736	CNVD
Chordoma	18071362	CNVD
Breast cancer	17850661	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	16272173	CNVD
Uveal melanoma	20484589	CNVD
Ovarian cancer	20844748	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21611746	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Colorectal cancer	21645411	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastric cancer	16891809	CNVD
Colorectal cancer	19455253	CNVD
Pregnancies with abnormal ultrasound findings	21110858	CNVD
Breast cancer	19181860	CNVD
Brain cancer	19584924	CNVD
Medulloblastoma	19584924	CNVD
Follicular lymphoma	17699855	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131842600-131858400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr8:131843800-131858200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:131846600-131849600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:131848400-131848800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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