Variant report

Variant	esv3440597
Chromosome Location	chr10:1545152-1549350
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 258 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:258 , 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	rs34770775	chr10:1545178-1545179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545004439	chr10:1545192-1545193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554378370	chr10:1545201-1545202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189963632	chr10:1545251-1545252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540182002	chr10:1545308-1545309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181231192	chr10:1545348-1545349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs79951026	chr10:1545363-1545364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370905530	chr10:1545371-1545372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs147748683	chr10:1545398-1545399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565253579	chr10:1545403-1545404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201687875	chr10:1545414-1545415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140673960	chr10:1545440-1545441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567423787	chr10:1545445-1545446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150084422	chr10:1545461-1545462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12241233	chr10:1545463-1545464	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs2063939	chr10:1545464-1545465	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs546470850	chr10:1545465-1545466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145482893	chr10:1545476-1545477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368164059	chr10:1545480-1545481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552116978	chr10:1545485-1545486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575855258	chr10:1545492-1545493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568746801	chr10:1545504-1545505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185222794	chr10:1545522-1545523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs75318385	chr10:1545547-1545548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532165381	chr10:1545548-1545549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs34396315	chr10:1545563-1545564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531547775	chr10:1545570-1545571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs369183508	chr10:1545573-1545574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545741938	chr10:1545589-1545590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs11594167	chr10:1545605-1545606	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs148850228	chr10:1545612-1545613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557449691	chr10:1545635-1545636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs2063938	chr10:1545684-1545685	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs553653202	chr10:1545701-1545702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs370231668	chr10:1545704-1545705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539908975	chr10:1545738-1545739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368291949	chr10:1545741-1545742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577036993	chr10:1545766-1545767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552224026	chr10:1545784-1545785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs375525108	chr10:1545786-1545787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs143499904	chr10:1545800-1545801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs565313617	chr10:1545815-1545816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs137981988	chr10:1545914-1545915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544760012	chr10:1545918-1545919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561328211	chr10:1545932-1545933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568835630	chr10:1545935-1545936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2813431	chr10:1545947-1545948	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs372851456	chr10:1545970-1545971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532876358	chr10:1545987-1545988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144855169	chr10:1545996-1545997	Weak transcription	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
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1543800-1545800	Enhancers	Fetal Intestine Large	intestine
2	chr10:1544000-1545800	Enhancers	Fetal Intestine Small	intestine
3	chr10:1544400-1549000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:1547000-1547200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr10:1547200-1547400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr10:1547200-1547400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr10:1547200-1547400	ZNF genes & repeats	Right Atrium	heart
8	chr10:1547200-1547800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr10:1547200-1564600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr10:1547400-1552000	Weak transcription	Right Atrium	heart
11	chr10:1547800-1550200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr10:1549000-1549400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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