Variant report

Variant	esv3480049
Chromosome Location	chr8:131848970-131854668
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 192 )
Associated
traits (count: 138 )

Variant overlapped rSNPs/rCNVs (count:192 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529933213	chr8:131848973-131848974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186011233	chr8:131848986-131848987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572320824	chr8:131849006-131849007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373699004	chr8:131849048-131849049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566754857	chr8:131849134-131849135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527612377	chr8:131849143-131849144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190915363	chr8:131849155-131849156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541228560	chr8:131849243-131849244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538716328	chr8:131849317-131849318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575871434	chr8:131849333-131849334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557431885	chr8:131849340-131849341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs151206686	chr8:131849347-131849348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536917025	chr8:131849357-131849358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555236701	chr8:131849380-131849381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62518063	chr8:131849409-131849410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs62518064	chr8:131849411-131849412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140346455	chr8:131849418-131849419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77967599	chr8:131849419-131849420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540779579	chr8:131849446-131849447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573180216	chr8:131849497-131849498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565371409	chr8:131849536-131849537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75058237	chr8:131849545-131849546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74798657	chr8:131849555-131849556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576784976	chr8:131849582-131849583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs180760409	chr8:131849606-131849607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146461380	chr8:131849640-131849641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574617784	chr8:131849652-131849653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs16904371	chr8:131849678-131849679	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs140767763	chr8:131849710-131849711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150094649	chr8:131849760-131849761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549641180	chr8:131849762-131849763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527573170	chr8:131849784-131849785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552454766	chr8:131849826-131849827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138324694	chr8:131849849-131849850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185604433	chr8:131849852-131849853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369627974	chr8:131849876-131849877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373467645	chr8:131849878-131849879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569320770	chr8:131849884-131849885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536375425	chr8:131849927-131849928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574670846	chr8:131850011-131850012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548372673	chr8:131850057-131850058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563031065	chr8:131850062-131850063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566766389	chr8:131850075-131850076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534185033	chr8:131850099-131850100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149228829	chr8:131850127-131850128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576726842	chr8:131850149-131850150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537829530	chr8:131850168-131850169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143397181	chr8:131850217-131850218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs117666410	chr8:131850239-131850240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139195931	chr8:131850252-131850253	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:3 , 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

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