Variant report

Variant	nsv977407
Chromosome Location	chr14:42391600-42398137
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:42394439..42395063-chr14:42579032..42579711,2	MCF-7	breast:
2	chr14:42392565..42394180-chr14:42396947..42398541,2	MCF-7	breast:
3	chr14:42392565..42394180-chr14:42396947..42398541,2	MCF-7	breast:
4	chr14:42394414..42395283-chr14:42522975..42523748,2	MCF-7	breast:
5	chr14:42079137..42079894-chr14:42394285..42394887,2	MCF-7	breast:

Extended variants
information (count: 50 )
Associated
traits (count: 60 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532973382	chr14:42394813-42394814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs539751848	chr14:42394817-42394818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183426740	chr14:42394854-42394855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562128815	chr14:42394867-42394868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs367987534	chr14:42394884-42394885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543630306	chr14:42394892-42394893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187647303	chr14:42394900-42394901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112136627	chr14:42394905-42394906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574093351	chr14:42394913-42394914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541097855	chr14:42394935-42394936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs74048815	chr14:42395009-42395010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533195405	chr14:42395064-42395065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74048816	chr14:42395077-42395078	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs563668480	chr14:42395094-42395095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575837125	chr14:42395110-42395111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs17181825	chr14:42395196-42395197	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs549572757	chr14:42395222-42395223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567732727	chr14:42395223-42395224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564720081	chr14:42395229-42395230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190176223	chr14:42395274-42395275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs111915874	chr14:42395287-42395288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs80104692	chr14:42395318-42395319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539483705	chr14:42395344-42395345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533675126	chr14:42395353-42395354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565443417	chr14:42397003-42397004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs117440177	chr14:42397035-42397036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189050306	chr14:42397037-42397038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563388174	chr14:42397097-42397098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs367586229	chr14:42397105-42397106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs140298945	chr14:42397143-42397144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs143479007	chr14:42397155-42397156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181094980	chr14:42397251-42397252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs139521037	chr14:42397274-42397275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530913768	chr14:42397293-42397294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111507508	chr14:42397327-42397328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184046122	chr14:42397328-42397329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs369255659	chr14:42397352-42397353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs17112395	chr14:42397399-42397400	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs189306357	chr14:42397456-42397457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557212666	chr14:42397463-42397464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114741337	chr14:42397490-42397491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs17112396	chr14:42397496-42397497	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs369673207	chr14:42397505-42397506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113914220	chr14:42397509-42397510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573594215	chr14:42397520-42397521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540899903	chr14:42397525-42397526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs141057792	chr14:42397555-42397556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs577472756	chr14:42397556-42397557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs55681342	chr14:42397569-42397570	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs563267876	chr14:42397595-42397596	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	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
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Bipolar disorder	19114987	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:42394800-42395400	Enhancers	Fetal Lung	lung
2	chr14:42395200-42395400	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr14:42397000-42397600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links