Variant report

Variant	esv3363132
Chromosome Location	chr8:39026645-39030843
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	chr8:39027799..39028359-chr8:39306044..39306636,2	MCF-7	breast:

Extended variants
information (count: 123 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542543646	chr8:39026652-39026653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73606707	chr8:39026676-39026677	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs115448862	chr8:39026716-39026717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369778942	chr8:39026757-39026758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181341035	chr8:39026814-39026815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552972550	chr8:39026835-39026836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141048542	chr8:39026849-39026850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184393188	chr8:39026881-39026882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555732872	chr8:39026938-39026939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550791520	chr8:39026943-39026944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189004942	chr8:39027016-39027017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115532331	chr8:39027019-39027020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557863974	chr8:39027091-39027092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577792754	chr8:39027104-39027105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540867940	chr8:39027236-39027237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569273741	chr8:39027244-39027245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145084112	chr8:39027263-39027264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10095787	chr8:39027272-39027273	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs541413780	chr8:39027284-39027285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561689125	chr8:39027295-39027296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566744448	chr8:39027317-39027318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550683176	chr8:39027320-39027321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200808161	chr8:39027388-39027389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371061585	chr8:39027429-39027430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373931512	chr8:39027452-39027453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374192950	chr8:39027453-39027454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376272670	chr8:39027477-39027478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs199865553	chr8:39027494-39027495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533992931	chr8:39027503-39027504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201056250	chr8:39027508-39027509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74356030	chr8:39027541-39027542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs199981625	chr8:39027544-39027545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564438574	chr8:39027564-39027565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181685773	chr8:39027577-39027578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537876972	chr8:39027604-39027605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557825120	chr8:39027622-39027623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572765684	chr8:39027626-39027627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs578078089	chr8:39027643-39027644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534092720	chr8:39027658-39027659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34694317	chr8:39027689-39027690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554348194	chr8:39027738-39027739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187373657	chr8:39027740-39027741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10106195	chr8:39027826-39027827	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs563213187	chr8:39027944-39027945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555978134	chr8:39027950-39027951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575291574	chr8:39027971-39027972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544274140	chr8:39028134-39028135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4481554	chr8:39028139-39028140	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs574409674	chr8:39028344-39028345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192097741	chr8:39028346-39028347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	21979893	CNVD
Prostate cancer	16573809	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
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	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
Colorectal cancer	16272173	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
Melanoma	18172304	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
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bladder cancer	19088036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17001308	CNVD
Breast cancer	17157792	CNVD
Cancer	17001308	CNVD
Cancer	18840272	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Chordoma	18071362	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21785460	CNVD
abnormal development	18461090	CNVD
Breast cancer	16620391	CNVD
Adrenocortical carcinoma	18281524	CNVD
Rhabdomyosarcoma	16790082	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21138945	CNVD
Lung cancer	21569311	CNVD
Prader-willi syndrome	20588305	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Cancer	20164919	CNVD
Adenocarcinoma	19001599	CNVD
Non-small cell lung cancer	19001599	CNVD
Squamous cell cancer	19001599	CNVD
Cone-rod dystrophy	22138850	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164920	CNVD
Renal cell carcinoma	21215367	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:38971200-39036400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:39016200-39036200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr8:39016200-39036400	Weak transcription	Ovary	ovary
4	chr8:39026000-39027200	Weak transcription	Left Ventricle	heart
5	chr8:39026000-39031200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:39026200-39030200	Weak transcription	Aorta	Aorta
7	chr8:39029800-39039400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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