Variant report

Variant	esv1831869
Chromosome Location	chr8:1418998-1421678
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	chr8:1417041..1419127-chr8:1432833..1434502,2	K562	blood:

Extended variants
information (count: 201 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:201 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113977599	chr8:1419003-1419004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200994123	chr8:1419004-1419005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187220268	chr8:1419008-1419009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370447601	chr8:1419014-1419015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150052868	chr8:1419023-1419024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs71499004	chr8:1419027-1419028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200037330	chr8:1419038-1419039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs367601748	chr8:1419065-1419066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111116233	chr8:1419066-1419067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201327129	chr8:1419103-1419104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113871593	chr8:1419118-1419119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200193742	chr8:1419156-1419157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111161379	chr8:1419175-1419176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372548118	chr8:1419178-1419179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375483581	chr8:1419213-1419214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111161380	chr8:1419237-1419238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368117002	chr8:1419308-1419309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371601039	chr8:1419311-1419312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375907360	chr8:1419330-1419331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368812575	chr8:1419350-1419351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373469201	chr8:1419368-1419369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375546917	chr8:1419384-1419385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs71499005	chr8:1419388-1419389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373717874	chr8:1419403-1419404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376717886	chr8:1419406-1419407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34911501	chr8:1419407-1419408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370810180	chr8:1419426-1419427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201186679	chr8:1419432-1419433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372725143	chr8:1419434-1419435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377409244	chr8:1419441-1419442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs193154544	chr8:1419460-1419461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71499006	chr8:1419465-1419466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113210223	chr8:1419471-1419472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71499007	chr8:1419479-1419480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561133433	chr8:1419483-1419484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371046592	chr8:1419490-1419491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375236637	chr8:1419498-1419499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192433021	chr8:1419502-1419503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71499008	chr8:1419503-1419504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113656276	chr8:1419509-1419510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567334127	chr8:1419510-1419511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141438081	chr8:1419522-1419523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183907584	chr8:1419528-1419529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141186068	chr8:1419529-1419530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183687788	chr8:1419547-1419548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145132005	chr8:1419548-1419549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544808956	chr8:1419570-1419571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558400139	chr8:1419595-1419596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572262966	chr8:1419615-1419616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540603405	chr8:1419616-1419617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:117)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Cancer	18840272	CNVD
Pilocytic astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Autism	20531469	CNVD
Breast cancer	20932292	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1414600-1420000	Weak transcription	Pancreas	Pancrea
2	chr8:1416000-1421400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr8:1418800-1420200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:1420200-1420600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:1420200-1421600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr8:1420600-1425200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:1421400-1422800	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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