Variant report

Variant	nsv528421
Chromosome Location	chr14:36534209-36535851
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr14:36535798-36536207	MCF10A-Er-Src	breast:	n/a	chr14:36535951-36535960
2	FOS	chr14:36535490-36536207	MCF10A-Er-Src	breast:	n/a	chr14:36535951-36535960
3	GATA3	chr14:36534368-36534553	MCF-7	breast:	n/a	chr14:36534501-36534508
4	MYC	chr14:36535526-36535675	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr14:36534117-36534234	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr14:36535555-36536123	MCF10A-Er-Src	breast:	n/a	n/a
7	STAT3	chr14:36535524-36536072	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
LINC00609	TF binding region

Extended variants
information (count: 64 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17103967	chr14:36534209-36534210	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540265852	chr14:36534234-36534235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34855742	chr14:36534246-36534247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7151051	chr14:36534256-36534257	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs534574283	chr14:36534289-36534290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs17103972	chr14:36534358-36534359	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs35999283	chr14:36534363-36534364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147673676	chr14:36534383-36534384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529369844	chr14:36534458-36534459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs17174953	chr14:36534464-36534465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374330833	chr14:36534484-36534485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530876794	chr14:36534503-36534504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189716504	chr14:36534507-36534508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368595949	chr14:36534550-36534551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564138171	chr14:36534566-36534567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73251603	chr14:36534574-36534575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546735873	chr14:36534596-36534597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111395217	chr14:36534649-36534650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529516436	chr14:36534708-36534709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142323068	chr14:36534721-36534722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569334776	chr14:36534734-36534735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs117615606	chr14:36534795-36534796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558136793	chr14:36534798-36534799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146906465	chr14:36534825-36534826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368181	chr14:36534827-36534828	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs139297052	chr14:36534840-36534841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573842696	chr14:36534860-36534861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs408783	chr14:36534873-36534874	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs147163385	chr14:36534880-36534881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182107157	chr14:36534881-36534882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575324187	chr14:36534892-36534893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149429518	chr14:36534916-36534917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73251666	chr14:36534927-36534928	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs143786112	chr14:36534939-36534940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559221639	chr14:36534964-36534965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs395212	chr14:36534965-36534966	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs560188919	chr14:36535016-36535017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529031060	chr14:36535079-36535080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549076456	chr14:36535101-36535102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567241095	chr14:36535111-36535112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569453259	chr14:36535175-36535176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75778307	chr14:36535181-36535182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148135717	chr14:36535207-36535208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7157182	chr14:36535226-36535227	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs187812487	chr14:36535244-36535245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375095	chr14:36535249-36535250	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs567307883	chr14:36535262-36535263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569354023	chr14:36535271-36535272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs386776453	chr14:36535280-36535281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192217553	chr14:36535281-36535282	Enhancers Weak transcription	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
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
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
Esophageal cancer	20955586	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
Cancer	21129771	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	17925434	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	21569311	CNVD
Lung cancer	21911935	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21858162	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:36524200-36538200	Weak transcription	Brain Hippocampus Middle	brain
2	chr14:36526200-36535800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr14:36531000-36538400	Weak transcription	Brain Substantia Nigra	brain
4	chr14:36531400-36538400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr14:36531600-36535400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:36535200-36535400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr14:36535200-36536600	Enhancers	HMEC	breast
8	chr14:36535400-36536400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr14:36535400-36536800	Enhancers	NHEK	skin
10	chr14:36535400-36537000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr14:36535400-36537200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr14:36535400-36537400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr14:36535800-36537000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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