Variant report

Variant	nsv519208
Chromosome Location	chr14:31222293-31225025
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	chr14:31222348..31225539-chr14:31226855..31229088,3	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201634125	chr14:31223620-31223621	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
2	rs533273522	chr14:31223651-31223652	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs547480663	chr14:31223673-31223674	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs370865154	chr14:31223677-31223678	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs559457737	chr14:31223707-31223708	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs551359701	chr14:31223736-31223737	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs548764344	chr14:31223772-31223773	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs570224373	chr14:31223786-31223787	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs373842891	chr14:31223792-31223793	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs537763844	chr14:31223798-31223799	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs552938241	chr14:31223801-31223802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188164800	chr14:31223828-31223829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs207474614	chr14:31223856-31223857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534646376	chr14:31223859-31223860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553063136	chr14:31223942-31223943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574479482	chr14:31223982-31223983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535267410	chr14:31224012-31224013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557137538	chr14:31224030-31224031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192897048	chr14:31224046-31224047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs74041128	chr14:31224066-31224067	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs370870232	chr14:31224231-31224232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576814882	chr14:31224266-31224267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541034317	chr14:31224273-31224274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs559540278	chr14:31224332-31224333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs145376033	chr14:31224377-31224378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs75281632	chr14:31224394-31224395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147271998	chr14:31224395-31224396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs531040687	chr14:31224412-31224413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552901356	chr14:31224419-31224420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs179562	chr14:31224458-31224459	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs179561	chr14:31224473-31224474	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs546642208	chr14:31224498-31224499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568193260	chr14:31224547-31224548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs179560	chr14:31224562-31224563	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs140859497	chr14:31224602-31224603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556808719	chr14:31224625-31224626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569033540	chr14:31224628-31224629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs539286677	chr14:31224643-31224644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557587730	chr14:31224655-31224656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs179559	chr14:31224661-31224662	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs540997558	chr14:31224666-31224667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs371152983	chr14:31224669-31224670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574773246	chr14:31224689-31224690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542287773	chr14:31224692-31224693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs563677893	chr14:31224702-31224703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557544827	chr14:31224784-31224785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs371187863	chr14:31224822-31224823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546423357	chr14:31224828-31224829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564742511	chr14:31224851-31224852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs528812151	chr14:31224898-31224899	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Acute lymphoblastic leukemia	20067559	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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	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
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic myeloid leukemia	16756668	CNVD
Sudden cardiac death	19188705	CNVD
Pilocytic astrocytoma	18670637	CNVD
Multiple myeloma	16616336	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31223600-31223800	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:31223800-31224400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr14:31223800-31224800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:31224800-31225200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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