Variant report

Variant	esv3371288
Chromosome Location	chr10:1717112-1717589
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	chr10:1714690..1717487-chr10:1717793..1720654,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78950124	chr10:1717116-1717117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75331278	chr10:1717124-1717125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548268603	chr10:1717143-1717144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs61527862	chr10:1717152-1717153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11250722	chr10:1717157-1717158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs4880528	chr10:1717177-1717178	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs12251552	chr10:1717183-1717184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs28550304	chr10:1717186-1717187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12251555	chr10:1717191-1717192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570458661	chr10:1717199-1717200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs28394266	chr10:1717209-1717210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534042559	chr10:1717211-1717212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372295872	chr10:1717212-1717213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570730403	chr10:1717219-1717220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539607214	chr10:1717226-1717227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186600679	chr10:1717228-1717229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs71379158	chr10:1717241-1717242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs4880529	chr10:1717242-1717243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372071759	chr10:1717244-1717245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556472571	chr10:1717245-1717246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs199729792	chr10:1717247-1717248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs4880909	chr10:1717249-1717250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536538570	chr10:1717281-1717282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576637471	chr10:1717287-1717288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552925627	chr10:1717306-1717307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs77566024	chr10:1717308-1717309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76789467	chr10:1717309-1717310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs116488199	chr10:1717310-1717311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs80316907	chr10:1717336-1717337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs79366365	chr10:1717341-1717342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375789798	chr10:1717342-1717343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs12258319	chr10:1717343-1717344	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs78674803	chr10:1717349-1717350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs79994790	chr10:1717355-1717356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs376785710	chr10:1717365-1717366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113089579	chr10:1717369-1717370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113562802	chr10:1717376-1717377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs75587656	chr10:1717381-1717382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs78271538	chr10:1717388-1717389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76986470	chr10:1717402-1717403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs79139813	chr10:1717409-1717410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs190276587	chr10:1717419-1717420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs74810860	chr10:1717421-1717422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs111457746	chr10:1717452-1717453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs74442401	chr10:1717454-1717455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs10903540	chr10:1717507-1717508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs181772447	chr10:1717514-1717515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373382096	chr10:1717515-1717516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs75125879	chr10:1717518-1717519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs147057287	chr10:1717524-1717525	Weak transcription Enhancers	n/a	n/a	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1707200-1728000	Weak transcription	Spleen	Spleen
2	chr10:1716000-1719600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:1716000-1721000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr10:1716000-1722000	Weak transcription	Lung	lung
5	chr10:1716800-1717400	Enhancers	Primary B cells from peripheral blood	blood
6	chr10:1716800-1718400	Enhancers	GM12878-XiMat	blood
7	chr10:1717400-1719200	Weak transcription	Primary B cells from peripheral blood	blood

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