Variant report

Variant	esv3403373
Chromosome Location	chr10:1502852-1507050
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	chr10:1492338..1494093-chr10:1506566..1508696,2	MCF-7	breast:

Extended variants
information (count: 305 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562669360	chr10:1502855-1502856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111919428	chr10:1502856-1502857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531665683	chr10:1502862-1502863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113451714	chr10:1502873-1502874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113313242	chr10:1502909-1502910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111412135	chr10:1502922-1502923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112371474	chr10:1502941-1502942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12255057	chr10:1502952-1502953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs367736267	chr10:1502953-1502954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113092512	chr10:1502955-1502956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530076090	chr10:1502965-1502966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111738049	chr10:1502990-1502991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112547442	chr10:1502999-1503000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146383214	chr10:1503005-1503006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs111794781	chr10:1503009-1503010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112868394	chr10:1503024-1503025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12264057	chr10:1503058-1503059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12241352	chr10:1503060-1503061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552398417	chr10:1503077-1503078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113285885	chr10:1503088-1503089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569096114	chr10:1503089-1503090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112600348	chr10:1503091-1503092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113600944	chr10:1503094-1503095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538174778	chr10:1503123-1503124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs56309944	chr10:1503127-1503128	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs191654142	chr10:1503136-1503137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567967934	chr10:1503178-1503179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs149681633	chr10:1503187-1503188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs370537224	chr10:1503218-1503219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73580310	chr10:1503233-1503234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577059208	chr10:1503272-1503273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545893080	chr10:1503280-1503281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs376517977	chr10:1503315-1503316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs78160705	chr10:1503355-1503356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183867360	chr10:1503364-1503365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376933951	chr10:1503378-1503379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549820035	chr10:1503396-1503397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188191218	chr10:1503405-1503406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs145514409	chr10:1503407-1503408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs10903457	chr10:1503414-1503415	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs535113927	chr10:1503421-1503422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532507714	chr10:1503495-1503496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148869136	chr10:1503503-1503504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554919916	chr10:1503514-1503515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531887841	chr10:1503563-1503564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs10903458	chr10:1503564-1503565	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs568777215	chr10:1503609-1503610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs534223140	chr10:1503622-1503623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs72764911	chr10:1503659-1503660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553831859	chr10:1503707-1503708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Cancer	20164919	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1493800-1504400	Weak transcription	Esophagus	oesophagus
2	chr10:1500400-1503000	Weak transcription	Primary B cells from peripheral blood	blood
3	chr10:1500400-1503200	Weak transcription	Dnd41	blood
4	chr10:1501000-1503200	Weak transcription	Primary B cells from cord blood	blood
5	chr10:1502000-1506200	Weak transcription	Gastric	stomach
6	chr10:1502200-1504600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr10:1502200-1509000	Weak transcription	Spleen	Spleen
8	chr10:1503000-1506400	Enhancers	Primary B cells from peripheral blood	blood
9	chr10:1503200-1503800	Enhancers	Dnd41	blood
10	chr10:1503200-1506600	Enhancers	Primary B cells from cord blood	blood
11	chr10:1503400-1503600	Enhancers	Brain Germinal Matrix	brain
12	chr10:1503800-1504200	Weak transcription	Dnd41	blood
13	chr10:1503800-1506400	Weak transcription	Fetal Heart	heart
14	chr10:1504200-1504800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr10:1504200-1504800	Enhancers	Dnd41	blood
16	chr10:1504200-1505400	Weak transcription	Brain Germinal Matrix	brain
17	chr10:1504400-1505400	Enhancers	Esophagus	oesophagus
18	chr10:1504400-1505600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr10:1504400-1507800	Enhancers	Fetal Thymus	thymus
20	chr10:1504600-1505000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr10:1504600-1505000	Bivalent Enhancer	Fetal Brain Male	brain
22	chr10:1504600-1505600	Enhancers	Pancreas	Pancrea
23	chr10:1504800-1505000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr10:1504800-1505000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr10:1504800-1505000	Bivalent Enhancer	Fetal Lung	lung
26	chr10:1504800-1505000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
27	chr10:1504800-1505200	ZNF genes & repeats	Fetal Kidney	kidney
28	chr10:1504800-1505600	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr10:1504800-1506400	Flanking Active TSS	Dnd41	blood
30	chr10:1504800-1506600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr10:1505000-1507200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr10:1505000-1507600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr10:1505200-1507200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr10:1505200-1507400	Weak transcription	Fetal Kidney	kidney
35	chr10:1505400-1505600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr10:1505400-1506000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr10:1505400-1506000	Enhancers	Brain Germinal Matrix	brain
38	chr10:1505400-1506200	Weak transcription	Esophagus	oesophagus
39	chr10:1505400-1506600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr10:1505600-1505800	Weak transcription	Pancreas	Pancrea
41	chr10:1506000-1506200	Enhancers	Primary hematopoietic stem cells	blood
42	chr10:1506000-1509000	Weak transcription	Brain Germinal Matrix	brain
43	chr10:1506200-1506400	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr10:1506200-1506400	ZNF genes & repeats	Gastric	stomach
45	chr10:1506200-1507400	Enhancers	Esophagus	oesophagus
46	chr10:1506400-1506800	Weak transcription	Primary B cells from peripheral blood	blood
47	chr10:1506400-1507000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr10:1506400-1507200	Weak transcription	Gastric	stomach
49	chr10:1506400-1507400	Enhancers	Fetal Heart	heart
50	chr10:1506400-1509800	Enhancers	Dnd41	blood

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