Variant report

Variant	esv3344408
Chromosome Location	chr8:131794170-131798768
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131788241..131790015-chr8:131791952..131794788,2	K562	blood:

Extended variants
information (count: 173 )
Associated
traits (count: 138 )

Variant overlapped rSNPs/rCNVs (count:173 , 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	rs182389526	chr8:131794170-131794171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557269354	chr8:131794174-131794175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572268850	chr8:131794238-131794239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1435445	chr8:131794286-131794287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1509857	chr8:131794332-131794333	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs5000695	chr8:131794335-131794336	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs531523539	chr8:131794337-131794338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1509858	chr8:131794338-131794339	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs34339823	chr8:131794339-131794340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372900939	chr8:131794358-131794359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561743639	chr8:131794392-131794393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372027887	chr8:131794406-131794407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150050450	chr8:131794418-131794419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1509859	chr8:131794435-131794436	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs533347029	chr8:131794441-131794442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187429531	chr8:131794442-131794443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191969951	chr8:131794448-131794449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75000867	chr8:131794461-131794462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78907054	chr8:131794462-131794463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567156394	chr8:131794465-131794466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183327999	chr8:131794489-131794490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547092298	chr8:131794493-131794494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149618040	chr8:131794547-131794548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1509860	chr8:131794583-131794584	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs539747625	chr8:131794594-131794595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571392400	chr8:131794630-131794631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538819301	chr8:131794671-131794672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112072975	chr8:131794676-131794677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189182793	chr8:131794677-131794678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs193078825	chr8:131794707-131794708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542560665	chr8:131794758-131794759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372267227	chr8:131794775-131794776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555692140	chr8:131794846-131794847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564202637	chr8:131794850-131794851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573940447	chr8:131794874-131794875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184662380	chr8:131794882-131794883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559400357	chr8:131794891-131794892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533286578	chr8:131794894-131794895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188133510	chr8:131794924-131794925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35848822	chr8:131794925-131794926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563751733	chr8:131794945-131794946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145407744	chr8:131794985-131794986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549423317	chr8:131795106-131795107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149183455	chr8:131795135-131795136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76065361	chr8:131795140-131795141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs57348229	chr8:131795169-131795170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs263249	chr8:131795260-131795261	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs538757592	chr8:131795267-131795268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191842907	chr8:131795275-131795276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs113442070	chr8:131795303-131795304	Weak transcription Enhancers	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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131789600-131814800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr8:131790000-131813800	Weak transcription	Brain Substantia Nigra	brain
3	chr8:131791600-131814000	Weak transcription	Brain Angular Gyrus	brain
4	chr8:131792400-131797200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr8:131792400-131798400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:131794600-131799800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr8:131795000-131801800	Weak transcription	Brain Anterior Caudate	brain
8	chr8:131795200-131796000	Enhancers	Spleen	Spleen
9	chr8:131795200-131796200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr8:131798000-131798200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:131798000-131798200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:131798000-131798400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:131798200-131799800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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