Variant report

Variant	esv3370236
Chromosome Location	chr8:1418195-1420443
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: 197 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:197 , 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	rs11136398	chr8:1418206-1418207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149834042	chr8:1418207-1418208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529170737	chr8:1418212-1418213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182321519	chr8:1418225-1418226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562644088	chr8:1418226-1418227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530786770	chr8:1418230-1418231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs60567659	chr8:1418234-1418235	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs146928283	chr8:1418243-1418244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150428917	chr8:1418244-1418245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546877661	chr8:1418299-1418300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142222979	chr8:1418317-1418318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535684338	chr8:1418344-1418345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143195419	chr8:1418349-1418350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148236770	chr8:1418352-1418353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372114747	chr8:1418367-1418368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576027543	chr8:1418393-1418394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141248298	chr8:1418401-1418402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557818539	chr8:1418402-1418403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577790033	chr8:1418405-1418406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533121063	chr8:1418409-1418410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150784680	chr8:1418461-1418462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11988580	chr8:1418467-1418468	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs542478714	chr8:1418475-1418476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562768827	chr8:1418486-1418487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374754174	chr8:1418495-1418496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531536810	chr8:1418506-1418507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377112351	chr8:1418511-1418512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74437549	chr8:1418517-1418518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138862704	chr8:1418518-1418519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4876063	chr8:1418574-1418575	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs566851914	chr8:1418575-1418576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs118016330	chr8:1418604-1418605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549324888	chr8:1418617-1418618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569554708	chr8:1418619-1418620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375213660	chr8:1418645-1418646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187346237	chr8:1418658-1418659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557783351	chr8:1418670-1418671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs17063931	chr8:1418682-1418683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533562919	chr8:1418689-1418690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553802812	chr8:1418695-1418696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs80123057	chr8:1418705-1418706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542793224	chr8:1418706-1418707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142053325	chr8:1418719-1418720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs117292142	chr8:1418722-1418723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190914133	chr8:1418729-1418730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564847695	chr8:1418752-1418753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533113370	chr8:1418756-1418757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377759767	chr8:1418790-1418791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113553501	chr8:1418817-1418818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111376229	chr8:1418818-1418819	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1414600-1420000	Weak transcription	Pancreas	Pancrea
2	chr8:1416000-1418400	Weak transcription	Spleen	Spleen
3	chr8:1416000-1421400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr8:1418800-1420200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:1420200-1420600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:1420200-1421600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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