Variant report

Variant	esv3347050
Chromosome Location	chr10:569175-569738
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77733531	chr10:569182-569183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs2605903	chr10:569186-569187	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs74907216	chr10:569193-569194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs370109619	chr10:569200-569201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563437930	chr10:569201-569202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs75098237	chr10:569206-569207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs111662292	chr10:569232-569233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529055816	chr10:569247-569248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs112242168	chr10:569248-569249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs75825457	chr10:569251-569252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112517743	chr10:569256-569257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548752536	chr10:569261-569262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74115035	chr10:569264-569265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs71376838	chr10:569286-569287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12783934	chr10:569287-569288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs2487814	chr10:569296-569297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79349740	chr10:569306-569307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113888331	chr10:569312-569313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2487815	chr10:569315-569316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs3121255	chr10:569320-569321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571183696	chr10:569328-569329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs75365353	chr10:569336-569337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75792137	chr10:569360-569361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs11252958	chr10:569370-569371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112215597	chr10:569376-569377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112836483	chr10:569379-569380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs112218402	chr10:569397-569398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2445590	chr10:569400-569401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs74833797	chr10:569415-569416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2445591	chr10:569424-569425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs80113348	chr10:569434-569435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577452548	chr10:569435-569436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs367782106	chr10:569439-569440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2445592	chr10:569440-569441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs2487816	chr10:569443-569444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs2445593	chr10:569461-569462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs71376839	chr10:569464-569465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs112916211	chr10:569465-569466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs80297464	chr10:569487-569488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536977156	chr10:569488-569489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553579600	chr10:569497-569498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573521963	chr10:569503-569504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs112331155	chr10:569504-569505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs546397990	chr10:569514-569515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113857037	chr10:569515-569516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113439799	chr10:569527-569528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs112190083	chr10:569542-569543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182547000	chr10:569556-569557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs575546481	chr10:569582-569583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs79363144	chr10:569615-569616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	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:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:557600-572600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:557600-577600	Weak transcription	NHLF	lung
3	chr10:557800-582200	Weak transcription	Osteobl	bone
4	chr10:559600-576000	Weak transcription	Spleen	Spleen
5	chr10:560400-571200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr10:560800-571600	Weak transcription	Right Ventricle	heart
7	chr10:560800-572800	Weak transcription	Lung	lung
8	chr10:560800-575000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr10:563600-571200	Weak transcription	HSMMtube	muscle
10	chr10:564600-571600	Weak transcription	Psoas Muscle	Psoas
11	chr10:565800-569600	Enhancers	Brain Anterior Caudate	brain
12	chr10:565800-571800	Weak transcription	Gastric	stomach
13	chr10:566000-581200	Weak transcription	Adipose Nuclei	Adipose
14	chr10:566200-570400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr10:566200-571600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr10:566200-571600	Weak transcription	Fetal Intestine Small	intestine
17	chr10:567000-569200	Enhancers	Brain Substantia Nigra	brain
18	chr10:567200-569200	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr10:567200-569200	Enhancers	Fetal Stomach	stomach
20	chr10:567200-570200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr10:567200-570200	Enhancers	Brain Angular Gyrus	brain
22	chr10:567200-570400	Enhancers	Brain Hippocampus Middle	brain
23	chr10:567400-570200	Enhancers	Brain Cingulate Gyrus	brain
24	chr10:567400-571800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr10:567600-571600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr10:568000-571600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr10:568000-571600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr10:568200-569800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr10:568200-571600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr10:568200-571600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr10:568200-571800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr10:568400-569200	Enhancers	Stomach Smooth Muscle	stomach
33	chr10:568600-569800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr10:568600-570000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr10:568600-570400	Weak transcription	Fetal Brain Male	brain
36	chr10:568600-571200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr10:568600-571200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr10:568600-571200	Weak transcription	Fetal Lung	lung
39	chr10:568600-571200	Weak transcription	Left Ventricle	heart
40	chr10:568600-571200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr10:568600-571400	Weak transcription	HSMM	muscle
42	chr10:568600-571600	Weak transcription	Brain Germinal Matrix	brain
43	chr10:568600-572600	Weak transcription	Placenta	Placenta
44	chr10:568600-572800	Weak transcription	Pancreas	Pancrea
45	chr10:568600-582000	Weak transcription	Right Atrium	heart
46	chr10:568600-582400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr10:568800-571200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr10:569000-569200	Enhancers	Ovary	ovary
49	chr10:569000-571200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr10:569000-571200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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