Variant report

Variant	esv3345405
Chromosome Location	chr10:500456-500798
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116190093	chr10:500463-500464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75027299	chr10:500464-500465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552178007	chr10:500515-500516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566032206	chr10:500529-500530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530721278	chr10:500537-500538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35272439	chr10:500540-500541	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs567343791	chr10:500541-500542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs35483048	chr10:500550-500551	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs36040579	chr10:500562-500563	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs36043585	chr10:500565-500566	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs538610119	chr10:500572-500573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558595673	chr10:500617-500618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569524511	chr10:500622-500623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs36106300	chr10:500627-500628	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs147301859	chr10:500657-500658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs117008156	chr10:500701-500702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369668479	chr10:500741-500742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568673863	chr10:500742-500743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553950023	chr10:500771-500772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7090704	chr10:500786-500787	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21525872	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21858162	CNVD
Obesity	19966786	CNVD

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:436600-521200	Weak transcription	HepG2	liver
2	chr10:479800-503600	Weak transcription	NHLF	lung
3	chr10:483000-503600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr10:483600-501000	Weak transcription	Esophagus	oesophagus
5	chr10:486000-500600	Weak transcription	NH-A	brain
6	chr10:486400-504600	Weak transcription	Fetal Kidney	kidney
7	chr10:486800-505400	Weak transcription	HSMM	muscle
8	chr10:490600-501000	Weak transcription	Pancreas	Pancrea
9	chr10:491400-501000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr10:491600-505400	Weak transcription	HSMMtube	muscle
11	chr10:492200-505400	Weak transcription	Fetal Intestine Large	intestine
12	chr10:492200-515600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr10:494400-503600	Weak transcription	Fetal Intestine Small	intestine
14	chr10:495800-501200	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr10:496000-501200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr10:496000-501200	Enhancers	Brain Angular Gyrus	brain
17	chr10:496000-501200	Enhancers	Brain Hippocampus Middle	brain
18	chr10:496000-501600	Enhancers	Brain Cingulate Gyrus	brain
19	chr10:496800-500600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr10:496800-501200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr10:496800-504400	Weak transcription	Gastric	stomach
22	chr10:497000-501400	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr10:497000-503400	Weak transcription	Fetal Heart	heart
24	chr10:497200-501000	Weak transcription	Aorta	Aorta
25	chr10:497200-501000	Weak transcription	Left Ventricle	heart
26	chr10:497200-501200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr10:497200-502200	Weak transcription	Adipose Nuclei	Adipose
28	chr10:497400-500800	Weak transcription	Ovary	ovary
29	chr10:497400-501000	Weak transcription	Psoas Muscle	Psoas
30	chr10:497600-501400	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr10:497800-500600	Weak transcription	Osteobl	bone
32	chr10:497800-501400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr10:497800-501600	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr10:497800-530400	Weak transcription	Stomach Mucosa	stomach
35	chr10:498000-501200	Enhancers	Brain Anterior Caudate	brain
36	chr10:498000-501400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr10:498000-501600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr10:498000-501600	Enhancers	Brain Substantia Nigra	brain
39	chr10:498200-501000	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr10:498200-501600	Enhancers	Primary T cells from cord blood	blood
41	chr10:498200-501600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr10:498200-504400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr10:498400-500800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr10:498400-501400	Enhancers	Colon Smooth Muscle	Colon
45	chr10:498400-501600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr10:498400-501600	Enhancers	Rectal Smooth Muscle	rectum
47	chr10:498600-500800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr10:498600-501400	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr10:498800-504400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr10:499000-500800	Enhancers	Pancreatic Islets	Pancreatic Islet

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