Variant report

Variant	esv3385643
Chromosome Location	chr8:131909869-131910253
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 142 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370738314	chr8:131909923-131909924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149986498	chr8:131909925-131909926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201638652	chr8:131909929-131909930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377472522	chr8:131909931-131909932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370796491	chr8:131909932-131909933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs72714429	chr8:131909934-131909935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113422793	chr8:131909935-131909936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371123330	chr8:131909936-131909937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375182996	chr8:131909937-131909938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374510107	chr8:131909941-131909942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377620443	chr8:131909944-131909945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370865099	chr8:131909949-131909950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375283053	chr8:131909952-131909953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78517304	chr8:131909954-131909955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368011621	chr8:131909955-131909956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370893486	chr8:131909958-131909959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373713591	chr8:131909962-131909963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140675350	chr8:131909966-131909967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs367705371	chr8:131909967-131909968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74705754	chr8:131909968-131909969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138685013	chr8:131909973-131909974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370616119	chr8:131909977-131909978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372099270	chr8:131909978-131909979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375460642	chr8:131909980-131909981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371952425	chr8:131909985-131909986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376595859	chr8:131909986-131909987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373780874	chr8:131909989-131909990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373748069	chr8:131909995-131909996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs367583553	chr8:131909999-131910000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143636404	chr8:131910002-131910003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372323543	chr8:131910003-131910004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376414297	chr8:131910004-131910005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374485577	chr8:131910012-131910013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368860443	chr8:131910016-131910017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs117510739	chr8:131910017-131910018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs117880670	chr8:131910020-131910021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368460935	chr8:131910028-131910029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371962613	chr8:131910031-131910032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374360454	chr8:131910032-131910033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373839608	chr8:131910034-131910035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376328239	chr8:131910042-131910043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376904030	chr8:131910046-131910047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369301356	chr8:131910055-131910056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372005703	chr8:131910059-131910060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575325581	chr8:131910070-131910071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs367841123	chr8:131910105-131910106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201746078	chr8:131910107-131910108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200089374	chr8:131910112-131910113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572946279	chr8:131910118-131910119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540457255	chr8:131910130-131910131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:142)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131895800-131914600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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