Variant report

Variant	esv2147573
Chromosome Location	chr8:11035935-11036425
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 138 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573788838	chr8:11035972-11035973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190244881	chr8:11035976-11035977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547494096	chr8:11036001-11036002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562752262	chr8:11036040-11036041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534102664	chr8:11036042-11036043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs35646464	chr8:11036053-11036054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs398047091	chr8:11036056-11036057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs34026609	chr8:11036057-11036058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536438964	chr8:11036058-11036059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs60175654	chr8:11036065-11036066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs55691073	chr8:11036082-11036083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs61653525	chr8:11036083-11036084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs376780790	chr8:11036084-11036085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs58694220	chr8:11036085-11036086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554428871	chr8:11036086-11036087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575943399	chr8:11036099-11036100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567893937	chr8:11036112-11036113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111466916	chr8:11036113-11036114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs200696428	chr8:11036120-11036121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544472562	chr8:11036126-11036127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs59028984	chr8:11036127-11036128	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs576801836	chr8:11036173-11036174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs79559799	chr8:11036174-11036175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375693953	chr8:11036185-11036186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564334564	chr8:11036186-11036187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10089039	chr8:11036197-11036198	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs556340744	chr8:11036198-11036199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184935354	chr8:11036209-11036210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs139095041	chr8:11036260-11036261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542310543	chr8:11036346-11036347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563702289	chr8:11036357-11036358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531150245	chr8:11036381-11036382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528808885	chr8:11036385-11036386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs562488700	chr8:11036388-11036389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564799442	chr8:11036394-11036395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs188432670	chr8:11036405-11036406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs142429566	chr8:11036408-11036409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532728506	chr8:11036410-11036411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:138)

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
Gastric cancer	21811585	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	21390130	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11026800-11037200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr8:11026800-11043600	Weak transcription	Pancreas	Pancrea
3	chr8:11026800-11043800	Weak transcription	Spleen	Spleen
4	chr8:11028000-11048200	Weak transcription	Primary B cells from cord blood	blood
5	chr8:11028200-11050200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr8:11028200-11052400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr8:11028200-11056600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr8:11028800-11054400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:11029200-11039400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:11029200-11039600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:11029600-11056800	Weak transcription	Fetal Intestine Small	intestine
12	chr8:11031400-11054200	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr8:11032000-11053800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr8:11032400-11042800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:11033400-11039600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:11034600-11054400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr8:11034600-11057000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:11034600-11057000	Weak transcription	Esophagus	oesophagus
19	chr8:11034800-11036000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:11035000-11036000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr8:11035200-11036000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:11035200-11038400	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr8:11035400-11054600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr8:11035600-11036000	Enhancers	HSMM	muscle
25	chr8:11035600-11037400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:11035600-11037800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:11035600-11040000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr8:11035600-11040000	Weak transcription	GM12878-XiMat	blood
29	chr8:11035600-11042200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr8:11035600-11042200	Weak transcription	Gastric	stomach
31	chr8:11035600-11044600	Weak transcription	NHEK	skin
32	chr8:11035600-11054000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:11035800-11036200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr8:11035800-11038000	Weak transcription	HSMMtube	muscle
35	chr8:11035800-11039600	Weak transcription	Primary B cells from peripheral blood	blood
36	chr8:11035800-11044600	Weak transcription	NH-A	brain
37	chr8:11035800-11044800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr8:11035800-11051600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr8:11035800-11056000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr8:11036000-11037400	Weak transcription	HSMM	muscle
41	chr8:11036000-11037800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr8:11036000-11037800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr8:11036000-11045000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr8:11036200-11036400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr8:11036400-11040000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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