Variant report

Variant	esv3523678
Chromosome Location	chr8:132091544-132093604
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 140 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552257265	chr8:132091571-132091572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570850904	chr8:132091600-132091601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184750614	chr8:132091610-132091611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs117315129	chr8:132091614-132091615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73352534	chr8:132091631-132091632	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs373519375	chr8:132091688-132091689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148481914	chr8:132091698-132091699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142593852	chr8:132091782-132091783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188292454	chr8:132091851-132091852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150987402	chr8:132091855-132091856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542054913	chr8:132091873-132091874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576023296	chr8:132091963-132091964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192301415	chr8:132091997-132091998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372815836	chr8:132092012-132092013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35187535	chr8:132092055-132092056	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs142036286	chr8:132092058-132092059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540793179	chr8:132092059-132092060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1556161	chr8:132092078-132092079	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs116769820	chr8:132092096-132092097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2149891	chr8:132092099-132092100	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs564312432	chr8:132092107-132092108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531788845	chr8:132092114-132092115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550203938	chr8:132092124-132092125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568217444	chr8:132092139-132092140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533268933	chr8:132092163-132092164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564499098	chr8:132092165-132092166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531721353	chr8:132092198-132092199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs59681306	chr8:132092228-132092229	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs58609754	chr8:132092232-132092233	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs144338061	chr8:132092233-132092234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566291860	chr8:132092288-132092289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185043847	chr8:132092303-132092304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147768201	chr8:132092312-132092313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576665524	chr8:132092328-132092329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141172374	chr8:132092355-132092356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150270505	chr8:132092373-132092374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372948797	chr8:132092392-132092393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs61331675	chr8:132092393-132092394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs398047420	chr8:132092400-132092401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138919695	chr8:132092417-132092418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540752344	chr8:132092443-132092444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376449022	chr8:132092457-132092458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189496035	chr8:132092465-132092466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149009851	chr8:132092471-132092472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115185115	chr8:132092514-132092515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182083088	chr8:132092564-132092565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6983624	chr8:132092570-132092571	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs530838023	chr8:132092590-132092591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550167284	chr8:132092608-132092609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185942820	chr8:132092655-132092656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:140)

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
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
Cancer	20164919	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:132079600-132093600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:132089800-132091600	Enhancers	Cortex derived primary cultured neurospheres	brain

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