Variant report

Variant	esv3410575
Chromosome Location	chr8:10051667-10052174
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 137 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143683081	chr8:10051672-10051673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537197579	chr8:10051688-10051689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550383673	chr8:10051703-10051704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs200634480	chr8:10051708-10051709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10088463	chr8:10051722-10051723	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs555643461	chr8:10051725-10051726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543386020	chr8:10051734-10051735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572363250	chr8:10051740-10051741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1905634	chr8:10051748-10051749	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs558177972	chr8:10051750-10051751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577934012	chr8:10051765-10051766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs79627392	chr8:10051774-10051775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563594602	chr8:10051778-10051779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs56281247	chr8:10051792-10051793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186995864	chr8:10051801-10051802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs142932190	chr8:10051825-10051826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559696878	chr8:10051831-10051832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs151099712	chr8:10051842-10051843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190282357	chr8:10051848-10051849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141087812	chr8:10051878-10051879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1905633	chr8:10051887-10051888	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs550666401	chr8:10051903-10051904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550628823	chr8:10051909-10051910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146917063	chr8:10051995-10051996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564402094	chr8:10052012-10052013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549205671	chr8:10052023-10052024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565930061	chr8:10052048-10052049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147560079	chr8:10052054-10052055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543512613	chr8:10052076-10052077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs182147146	chr8:10052085-10052086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532411306	chr8:10052097-10052098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565370802	chr8:10052108-10052109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs141969924	chr8:10052128-10052129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs537019636	chr8:10052158-10052159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:137)

Disease	PMID	Source
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
Prostate cancer	16573809	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
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10048200-10052200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:10050000-10057800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:10050000-10068000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr8:10050200-10053600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr8:10050400-10054600	Weak transcription	HMEC	breast
6	chr8:10050400-10054600	Weak transcription	NHEK	skin
7	chr8:10050400-10055000	Weak transcription	HSMMtube	muscle
8	chr8:10050400-10058000	Weak transcription	Aorta	Aorta
9	chr8:10050600-10054800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:10050600-10055000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:10050800-10053800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:10051000-10052200	Weak transcription	Fetal Brain Female	brain
13	chr8:10051600-10058400	Enhancers	Fetal Brain Male	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links