Variant report

Variant	esv1806530
Chromosome Location	chr10:4856852-4858356
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:4857197..4858287-chr10:5475785..5476862,3	MCF-7	breast:
2	chr10:4857251..4858256-chr10:4891548..4892484,4	MCF-7	breast:
3	chr10:4857671..4858400-chr10:5624407..5624994,2	K562	blood:
4	chr10:4856147..4859117-chr10:5323721..5326556,2	K562	blood:
5	chr10:4855444..4858431-chr10:5530481..5532071,2	MCF-7	breast:
6	chr10:4857646..4858298-chr10:5023972..5024754,3	MCF-7	breast:
7	chr10:4857632..4858594-chr10:4891971..4892610,3	K562	blood:
8	chr10:4857778..4858293-chr10:5425331..5426189,2	K562	blood:
9	chr10:4857887..4858608-chr10:5325585..5326522,2	K562	blood:
10	chr10:4857664..4858243-chr10:4890593..4891221,2	MCF-7	breast:
11	chr10:4857628..4858745-chr10:4881174..4882066,5	MCF-7	breast:
12	chr10:4857209..4858993-chr10:4874035..4875917,2	K562	blood:
13	chr10:4856908..4859105-chr10:4868238..4871321,3	MCF-7	breast:
14	chr10:4857079..4859136-chr10:4895299..4898229,2	K562	blood:
15	chr10:4857556..4858565-chr10:4881032..4882202,10	MCF-7	breast:
16	chr10:4857132..4857686-chr10:5425226..5426179,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000165568	chromatin interactions

Extended variants
information (count: 72 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115746269	chr10:4856859-4856860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs563758676	chr10:4856869-4856870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139112881	chr10:4856870-4856871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369694306	chr10:4856885-4856886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539829630	chr10:4856952-4856953	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs144129694	chr10:4857042-4857043	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs117275367	chr10:4857047-4857048	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs550794522	chr10:4857082-4857083	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs562443147	chr10:4857088-4857089	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs145092023	chr10:4857089-4857090	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs533471956	chr10:4857122-4857123	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs181237631	chr10:4857131-4857132	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs186026369	chr10:4857132-4857133	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs3100192	chr10:4857143-4857144	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs549394176	chr10:4857219-4857220	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs148702353	chr10:4857236-4857237	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs538114960	chr10:4857268-4857269	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs556717790	chr10:4857282-4857283	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs56845619	chr10:4857287-4857288	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs151204131	chr10:4857309-4857310	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs557461643	chr10:4857321-4857322	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs572584600	chr10:4857408-4857409	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs113186100	chr10:4857420-4857421	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs543265157	chr10:4857425-4857426	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs370474699	chr10:4857472-4857473	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs554936145	chr10:4857478-4857479	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs374021838	chr10:4857501-4857502	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs61830279	chr10:4857513-4857514	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs147867518	chr10:4857530-4857531	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs76834602	chr10:4857539-4857540	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs548808969	chr10:4857577-4857578	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs141553771	chr10:4857667-4857668	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs545208396	chr10:4857677-4857678	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs560615062	chr10:4857678-4857679	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs113140953	chr10:4857682-4857683	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs113946106	chr10:4857684-4857685	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs56131474	chr10:4857717-4857718	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs549406371	chr10:4857721-4857722	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs200049472	chr10:4857727-4857728	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs371122341	chr10:4857792-4857793	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs77269601	chr10:4857794-4857795	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs567501516	chr10:4857807-4857808	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs532051583	chr10:4857808-4857809	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs550169889	chr10:4857809-4857810	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs375387109	chr10:4857811-4857812	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs111398320	chr10:4857833-4857834	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs71391977	chr10:4857884-4857885	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs11499182	chr10:4857887-4857888	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs111488752	chr10:4857904-4857905	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs553945285	chr10:4857917-4857918	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	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
Breast cancer	17133270	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
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
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4853200-4857800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr10:4854600-4857600	Enhancers	Osteobl	bone
3	chr10:4855000-4857200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr10:4855000-4857200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr10:4855400-4857000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr10:4855400-4857000	Weak transcription	Esophagus	oesophagus
7	chr10:4855400-4867400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr10:4855600-4857000	Weak transcription	K562	blood
9	chr10:4855600-4857200	Weak transcription	NHEK	skin
10	chr10:4855600-4857400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr10:4855600-4862800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr10:4855800-4857200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr10:4856600-4857000	Enhancers	A549	lung
14	chr10:4856600-4857000	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr10:4856600-4857000	Enhancers	NHDF-Ad	bronchial
16	chr10:4856600-4857600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr10:4856800-4857000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr10:4856800-4857200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr10:4856800-4857200	Enhancers	HepG2	liver
20	chr10:4856800-4857600	Enhancers	HMEC	breast
21	chr10:4856800-4857600	Enhancers	HUVEC	blood vessel
22	chr10:4857000-4857200	Flanking Active TSS	A549	lung
23	chr10:4857000-4857200	Weak transcription	Hela-S3	cervix
24	chr10:4857000-4857400	Flanking Active TSS	K562	blood
25	chr10:4857000-4857600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr10:4857000-4857600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr10:4857000-4857600	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr10:4857000-4857600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr10:4857200-4857400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr10:4857200-4857400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr10:4857200-4857400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr10:4857200-4857400	Enhancers	Esophagus	oesophagus
33	chr10:4857200-4857400	Flanking Active TSS	Hela-S3	cervix
34	chr10:4857200-4857600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr10:4857200-4857600	Enhancers	Primary T cells fromperipheralblood	blood
36	chr10:4857200-4857600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr10:4857200-4857600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr10:4857200-4857600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr10:4857200-4857600	Enhancers	Muscle Satellite Cultured Cells	--
40	chr10:4857200-4857600	Active TSS	A549	lung
41	chr10:4857200-4857600	Active TSS	HepG2	liver
42	chr10:4857200-4857800	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr10:4857200-4857800	Enhancers	Dnd41	blood
44	chr10:4857400-4857600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr10:4857400-4857600	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr10:4857400-4857600	Flanking Active TSS	Duodenum Mucosa	Duodenum
47	chr10:4857400-4857600	Active TSS	Hela-S3	cervix
48	chr10:4857400-4857600	Enhancers	HSMM	muscle
49	chr10:4857400-4857600	Active TSS	K562	blood
50	chr10:4857400-4857600	Enhancers	NHEK	skin

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