Variant report

Variant	esv3354681
Chromosome Location	chr10:1415952-1420150
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:1401084..1403502-chr10:1416856..1418570,2	MCF-7	breast:
2	chr10:1402501..1404466-chr10:1415279..1418172,2	K562	blood:

Variant related genes	Relation type
ENSG00000233052	chromatin interactions

Extended variants
information (count: 259 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:259 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538016599	chr10:1415953-1415954	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs386739833	chr10:1415954-1415955	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs11250476	chr10:1415955-1415956	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs71494954	chr10:1415968-1415969	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs12768188	chr10:1415976-1415977	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs71379116	chr10:1415982-1415983	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs11250477	chr10:1415994-1415995	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs372512108	chr10:1415995-1415996	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs76440879	chr10:1416001-1416002	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs11250478	chr10:1416005-1416006	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs2805502	chr10:1416009-1416010	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs4880841	chr10:1416015-1416016	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs539040778	chr10:1416019-1416020	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs558770168	chr10:1416020-1416021	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs368997911	chr10:1416052-1416053	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs575364238	chr10:1416054-1416055	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs544388886	chr10:1416056-1416057	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs561102558	chr10:1416064-1416065	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs111737409	chr10:1416071-1416072	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs111534602	chr10:1416075-1416076	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs111708051	chr10:1416104-1416105	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs112600215	chr10:1416108-1416109	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs71494955	chr10:1416126-1416127	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs71494956	chr10:1416147-1416148	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs71494957	chr10:1416153-1416154	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs2805503	chr10:1416159-1416160	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs113709241	chr10:1416170-1416171	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs113869160	chr10:1416174-1416175	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs11250479	chr10:1416180-1416181	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs11250480	chr10:1416186-1416187	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs12778705	chr10:1416192-1416193	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs71379117	chr10:1416206-1416207	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs192705515	chr10:1416248-1416249	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs61833601	chr10:1416277-1416278	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs11250481	chr10:1416281-1416282	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs527884621	chr10:1416310-1416311	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs531474443	chr10:1416322-1416323	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs140470748	chr10:1416349-1416350	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs568214805	chr10:1416383-1416384	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs527505057	chr10:1416460-1416461	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs17221652	chr10:1416472-1416473	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs570760029	chr10:1416498-1416499	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs185714585	chr10:1416520-1416521	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs538636566	chr10:1416559-1416560	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs368807455	chr10:1416574-1416575	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs377380583	chr10:1416607-1416608	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs111608097	chr10:1416609-1416610	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs560699726	chr10:1416736-1416737	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs2805504	chr10:1416754-1416755	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs117741282	chr10:1416758-1416759	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
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
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Autism	22543975	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1404800-1419600	Weak transcription	Right Atrium	heart
2	chr10:1412200-1416800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:1412200-1417800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr10:1412200-1417800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr10:1412200-1418000	Weak transcription	Brain Substantia Nigra	brain
6	chr10:1412200-1420000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr10:1412200-1421800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr10:1412400-1417800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr10:1412400-1421400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr10:1415800-1416000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr10:1415800-1417800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr10:1416000-1417800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr10:1416400-1416600	Enhancers	Fetal Kidney	kidney
14	chr10:1416600-1418000	Weak transcription	Fetal Kidney	kidney
15	chr10:1416800-1417000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr10:1417000-1417400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr10:1417400-1417600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr10:1417400-1418200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr10:1417400-1421800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr10:1417800-1418200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr10:1417800-1418200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr10:1417800-1418200	Enhancers	Gastric	stomach
23	chr10:1417800-1418400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr10:1417800-1418400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr10:1417800-1418400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
26	chr10:1417800-1418400	ZNF genes & repeats	Pancreas	Pancrea
27	chr10:1418000-1418200	Active TSS	Brain Substantia Nigra	brain
28	chr10:1418000-1418200	Bivalent Enhancer	Fetal Brain Male	brain
29	chr10:1418000-1418200	ZNF genes & repeats	Fetal Kidney	kidney
30	chr10:1418000-1418200	Bivalent/Poised TSS	Fetal Lung	lung
31	chr10:1418000-1418400	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr10:1418200-1419200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr10:1418200-1419600	Weak transcription	Fetal Kidney	kidney
34	chr10:1418200-1420200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr10:1418200-1421800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr10:1418400-1419600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr10:1418400-1419600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr10:1418400-1419600	Weak transcription	Pancreas	Pancrea
39	chr10:1418400-1420800	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr10:1419200-1419800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr10:1419400-1420000	Enhancers	Fetal Intestine Large	intestine
42	chr10:1419400-1420000	Enhancers	Fetal Intestine Small	intestine
43	chr10:1419400-1420600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr10:1419600-1419800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr10:1419600-1419800	Bivalent Enhancer	Liver	Liver
46	chr10:1419600-1419800	Enhancers	Fetal Kidney	kidney
47	chr10:1419600-1420000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
48	chr10:1419600-1420000	Bivalent Enhancer	Fetal Brain Male	brain
49	chr10:1419600-1420400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr10:1419600-1420600	Bivalent Enhancer	Fetal Muscle Leg	muscle

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