Variant report

Variant	esv3419339
Chromosome Location	chr8:6487244-6487777
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 135 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540332068	chr8:6487260-6487261	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149657743	chr8:6487266-6487267	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550182513	chr8:6487294-6487295	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567413117	chr8:6487298-6487299	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536582134	chr8:6487328-6487329	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs13256011	chr8:6487331-6487332	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs181321438	chr8:6487344-6487345	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538744380	chr8:6487396-6487397	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559049937	chr8:6487410-6487411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs3020263	chr8:6487449-6487450	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs184043769	chr8:6487455-6487456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6998017	chr8:6487459-6487460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555038540	chr8:6487466-6487467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144447121	chr8:6487469-6487470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375375598	chr8:6487511-6487512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs375458222	chr8:6487527-6487528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540969999	chr8:6487533-6487534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548108246	chr8:6487566-6487567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs148784576	chr8:6487572-6487573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369829256	chr8:6487583-6487584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532698695	chr8:6487593-6487594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561725335	chr8:6487596-6487597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545990375	chr8:6487605-6487606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs564610293	chr8:6487613-6487614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530535861	chr8:6487615-6487616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568104968	chr8:6487639-6487640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76000871	chr8:6487643-6487644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567280640	chr8:6487644-6487645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2936511	chr8:6487727-6487728	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs2928591	chr8:6487735-6487736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs566661644	chr8:6487740-6487741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:135)

Disease	PMID	Source
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
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
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	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
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	21364760	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	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
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6458000-6498400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:6474200-6505200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr8:6474600-6488800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:6474800-6498400	Weak transcription	HSMM	muscle
5	chr8:6476400-6499000	Weak transcription	Brain Angular Gyrus	brain
6	chr8:6476400-6502800	Weak transcription	Colonic Mucosa	Colon
7	chr8:6478000-6487400	Weak transcription	Small Intestine	intestine
8	chr8:6478200-6494600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:6478400-6498400	Weak transcription	HMEC	breast
10	chr8:6479600-6499800	Weak transcription	Aorta	Aorta
11	chr8:6480000-6502000	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr8:6480200-6489400	Weak transcription	Brain Substantia Nigra	brain
13	chr8:6480200-6501800	Weak transcription	NHEK	skin
14	chr8:6480200-6502000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr8:6480200-6502600	Weak transcription	Gastric	stomach
16	chr8:6480200-6523800	Weak transcription	Fetal Brain Female	brain
17	chr8:6480400-6491400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr8:6480400-6498400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:6480400-6499600	Weak transcription	Brain Anterior Caudate	brain
20	chr8:6480400-6499800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:6480400-6499800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:6480400-6499800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr8:6480400-6502200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr8:6480400-6505400	Weak transcription	Lung	lung
25	chr8:6480800-6499600	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr8:6481800-6501800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr8:6482000-6501800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr8:6482000-6503600	Weak transcription	Esophagus	oesophagus
29	chr8:6482200-6501200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr8:6483200-6496200	Weak transcription	Pancreas	Pancrea
31	chr8:6483800-6504400	Weak transcription	Liver	Liver
32	chr8:6484000-6500200	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr8:6484000-6502000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr8:6484000-6502200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:6484400-6499800	Weak transcription	Brain Hippocampus Middle	brain
36	chr8:6484400-6502400	Weak transcription	Stomach Smooth Muscle	stomach
37	chr8:6484400-6503000	Weak transcription	Spleen	Spleen
38	chr8:6484400-6503400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr8:6484800-6491800	Weak transcription	Primary T cells from cord blood	blood
40	chr8:6484800-6496400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr8:6484800-6505200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr8:6485000-6488200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr8:6485000-6499800	Weak transcription	Fetal Muscle Leg	muscle
44	chr8:6485000-6500400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr8:6485000-6502800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr8:6485000-6504400	Weak transcription	Fetal Intestine Large	intestine
47	chr8:6485200-6494000	Weak transcription	Thymus	Thymus
48	chr8:6485200-6502000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr8:6485400-6494800	Weak transcription	Dnd41	blood
50	chr8:6485400-6499000	Weak transcription	Placenta	Placenta

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