Variant report

Variant	nsv1045917
Chromosome Location	chr14:40156483-40184563
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	chr14:40151450..40153481-chr14:40156215..40158887,2	MCF-7	breast:
2	chr14:40182487..40184549-chr14:40186231..40188606,2	MCF-7	breast:

Extended variants
information (count: 174 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:174 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2781350	chr14:40161168-40161169	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551313903	chr14:40161175-40161176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571416558	chr14:40161209-40161210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs11623929	chr14:40161240-40161241	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs541017189	chr14:40161250-40161251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535846323	chr14:40161279-40161280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2749480	chr14:40161301-40161302	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs536413085	chr14:40161425-40161426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138958841	chr14:40161452-40161453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs35592580	chr14:40161453-40161454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144488129	chr14:40161454-40161455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376667618	chr14:40161455-40161456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77756858	chr14:40161464-40161465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147263538	chr14:40161466-40161467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140841117	chr14:40161491-40161492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572220774	chr14:40161509-40161510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541102520	chr14:40161512-40161513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1956137	chr14:40161603-40161604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10137830	chr14:40161628-40161629	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs183367912	chr14:40161633-40161634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs10137748	chr14:40161635-40161636	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs10150092	chr14:40161641-40161642	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs531844447	chr14:40161653-40161654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551401695	chr14:40161681-40161682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564915915	chr14:40161683-40161684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs74049115	chr14:40161726-40161727	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs187807869	chr14:40161741-40161742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs193164314	chr14:40161759-40161760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs183029610	chr14:40161768-40161769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536063330	chr14:40161778-40161779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549910005	chr14:40161779-40161780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113148446	chr14:40161794-40161795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs370723502	chr14:40161795-40161796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569894805	chr14:40161850-40161851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs10138327	chr14:40161946-40161947	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs1958966	chr14:40162037-40162038	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs572053138	chr14:40162042-40162043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs377526810	chr14:40162083-40162084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147189786	chr14:40162102-40162103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554387957	chr14:40162103-40162104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574425870	chr14:40162111-40162112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542861304	chr14:40162120-40162121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563087719	chr14:40162129-40162130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs553955150	chr14:40162135-40162136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576376106	chr14:40162141-40162142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs75755994	chr14:40162144-40162145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs187359036	chr14:40162169-40162170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs142193063	chr14:40162182-40162183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547724395	chr14:40162187-40162188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs151223895	chr14:40162194-40162195	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:40161000-40162200	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr14:40174000-40174400	Enhancers	Fetal Kidney	kidney
3	chr14:40181000-40182400	Enhancers	Fetal Kidney	kidney
4	chr14:40183000-40183200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:40183000-40183400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr14:40183200-40191400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links