Variant report

Variant	nsv825212
Chromosome Location	chr10:1447722-1448334
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	chr10:1439393..1442041-chr10:1448217..1450840,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113088497	chr10:1447747-1447748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574437401	chr10:1447753-1447754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547821902	chr10:1447818-1447819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370379171	chr10:1447825-1447826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs3029747	chr10:1447847-1447848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs67463922	chr10:1447848-1447849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530845584	chr10:1447852-1447853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549874696	chr10:1447862-1447863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370650936	chr10:1447867-1447868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149742323	chr10:1447909-1447910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145632165	chr10:1447915-1447916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549101447	chr10:1447927-1447928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2001197	chr10:1447951-1447952	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs182820095	chr10:1448015-1448016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551563530	chr10:1448032-1448033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560122698	chr10:1448044-1448045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571572573	chr10:1448074-1448075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs2805529	chr10:1448082-1448083	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs556661416	chr10:1448086-1448087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs2820586	chr10:1448087-1448088	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs535953640	chr10:1448099-1448100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187207806	chr10:1448133-1448134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113620331	chr10:1448134-1448135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113145742	chr10:1448137-1448138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545181747	chr10:1448158-1448159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs2805530	chr10:1448170-1448171	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs113257895	chr10:1448224-1448225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191630668	chr10:1448269-1448270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2387669	chr10:1448271-1448272	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs529328995	chr10:1448298-1448299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372216527	chr10:1448321-1448322	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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1443600-1456000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:1446200-1449400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr10:1446400-1448800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:1446400-1449400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr10:1448000-1449400	Enhancers	Stomach Mucosa	stomach

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