Variant report

Variant	esv2425349
Chromosome Location	chr8:1366687-1368092
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 122 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115459729	chr8:1366709-1366710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556124104	chr8:1366712-1366713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs62484238	chr8:1366725-1366726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545074636	chr8:1366734-1366735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564664057	chr8:1366738-1366739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113669415	chr8:1366740-1366741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148547563	chr8:1366753-1366754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs28499013	chr8:1366756-1366757	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs369231730	chr8:1366759-1366760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs28706510	chr8:1366772-1366773	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs117320879	chr8:1366794-1366795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577279973	chr8:1366828-1366829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs116176581	chr8:1366839-1366840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142927855	chr8:1366885-1366886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150676872	chr8:1366898-1366899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs13268000	chr8:1366903-1366904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs139862394	chr8:1366906-1366907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143297260	chr8:1366907-1366908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543942895	chr8:1366909-1366910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565224565	chr8:1366916-1366917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs60103380	chr8:1366921-1366922	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs558144090	chr8:1366942-1366943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs13266938	chr8:1366970-1366971	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs540729771	chr8:1366971-1366972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs55649442	chr8:1366983-1366984	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs373625271	chr8:1366990-1366991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543685747	chr8:1366992-1366993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563407818	chr8:1367012-1367013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186993949	chr8:1367023-1367024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs117848689	chr8:1367030-1367031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs146659977	chr8:1367037-1367038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559754263	chr8:1367048-1367049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527784509	chr8:1367056-1367057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547954001	chr8:1367070-1367071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192979829	chr8:1367073-1367074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs74497347	chr8:1367093-1367094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs550368086	chr8:1367095-1367096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570216387	chr8:1367099-1367100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs140243803	chr8:1367103-1367104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs149950716	chr8:1367106-1367107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs571753851	chr8:1367108-1367109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs145097989	chr8:1367126-1367127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185210881	chr8:1367143-1367144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574553039	chr8:1367176-1367177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs62484239	chr8:1367178-1367179	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs563508221	chr8:1367179-1367180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs577018200	chr8:1367185-1367186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188877516	chr8:1367188-1367189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs149075806	chr8:1367215-1367216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs539768519	chr8:1367232-1367233	Weak transcription Enhancers	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
Schizophrenia	23813976	CNVD
Ependymoma	20639864	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1364800-1367400	Enhancers	Fetal Brain Male	brain
2	chr8:1366000-1370800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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