Variant report

Variant	nsv85568
Chromosome Location	chr14:20618722-20621908
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	SPI1	chr14:20619820-20619877	K562	blood:	n/a	n/a
2	STAT3	chr14:20618607-20618775	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:20611730..20613442-chr14:20616450..20619196,2	K562	blood:

Variant related genes	Relation type
RNA5SP381	TF binding region
ENSG00000184394	chromatin interactions

Extended variants
information (count: 108 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542816833	chr14:20618737-20618738	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs561154000	chr14:20618751-20618752	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs542394561	chr14:20618767-20618768	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs9323588	chr14:20618768-20618769	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs34368360	chr14:20618803-20618804	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs9323589	chr14:20618830-20618831	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs565849445	chr14:20618855-20618856	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs560605832	chr14:20618937-20618938	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs375906089	chr14:20618944-20618945	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs531963144	chr14:20618950-20618951	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs554361639	chr14:20618972-20618973	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs550186615	chr14:20619004-20619005	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs569772379	chr14:20619018-20619019	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs189250078	chr14:20619029-20619030	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs537362419	chr14:20619032-20619033	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs555642055	chr14:20619051-20619052	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs180674965	chr14:20619055-20619056	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs10133654	chr14:20619072-20619073	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs553425421	chr14:20619082-20619083	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs578168674	chr14:20619091-20619092	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs10149305	chr14:20619146-20619147	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs557414173	chr14:20619201-20619202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575577499	chr14:20619268-20619269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559004430	chr14:20619285-20619286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116886170	chr14:20619320-20619321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572982975	chr14:20619341-20619342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376831821	chr14:20619355-20619356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540087855	chr14:20619375-20619376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564969066	chr14:20619425-20619426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532096634	chr14:20619432-20619433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142405657	chr14:20619459-20619460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562152159	chr14:20619473-20619474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373807030	chr14:20619477-20619478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10131163	chr14:20619501-20619502	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs549650553	chr14:20619536-20619537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10134050	chr14:20619555-20619556	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs535207639	chr14:20619587-20619588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546906448	chr14:20619606-20619607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571742930	chr14:20619628-20619629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76664244	chr14:20619646-20619647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186374097	chr14:20619688-20619689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115685888	chr14:20619721-20619722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577208198	chr14:20619740-20619741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575704473	chr14:20619746-20619747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377034819	chr14:20619768-20619769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528123229	chr14:20619774-20619775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147948564	chr14:20619799-20619800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10149987	chr14:20619816-20619817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10131458	chr14:20619837-20619838	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs113283941	chr14:20619841-20619842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Cone-rod dystrophy	18421352	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell prolymphocytic leukemia	19278963	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
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	21482944	CNVD
Mental retardation	19951919	CNVD
Neuroblastoma	21899760	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Esophageal cancer	20955586	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17440070	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
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
Breast cancer	21509527	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20613600-20621000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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