Variant report

Variant	nsv974269
Chromosome Location	chr14:20622065-20636587
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:20615947..20618319-chr14:20622650..20625017,2	K562	blood:
2	chr14:20615947..20618319-chr14:20622650..20625486,3	K562	blood:
3	chr14:20623957..20624479-chr3:64655642..64656615,2	MCF-7	breast:
4	chr14:20623640..20625607-chr14:20644962..20647182,2	K562	blood:

Variant related genes	Relation type
ENSG00000259074	chromatin interactions

Extended variants
information (count: 154 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:154 , 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	rs17277102	chr14:20622221-20622222	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs539548413	chr14:20622295-20622296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142649305	chr14:20622308-20622309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576103417	chr14:20622324-20622325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537083704	chr14:20622329-20622330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556565727	chr14:20622338-20622339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs199651181	chr14:20622341-20622342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529461777	chr14:20622352-20622353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532042365	chr14:20622358-20622359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs76407145	chr14:20622363-20622364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371074721	chr14:20622673-20622674	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs550174916	chr14:20622692-20622693	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs559189433	chr14:20622698-20622699	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs144913747	chr14:20622729-20622730	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs187641540	chr14:20622762-20622763	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs28605214	chr14:20622779-20622780	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs565885233	chr14:20622797-20622798	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs7157484	chr14:20622800-20622801	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs35583646	chr14:20622803-20622804	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs551489802	chr14:20622805-20622806	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs529946103	chr14:20622847-20622848	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs569802826	chr14:20622881-20622882	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs547932683	chr14:20622903-20622904	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs141154873	chr14:20622951-20622952	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs536343691	chr14:20622961-20622962	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs568625513	chr14:20622962-20622963	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs1952803	chr14:20622987-20622988	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs150732575	chr14:20623064-20623065	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs192332568	chr14:20623067-20623068	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs182647484	chr14:20623088-20623089	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs188148633	chr14:20623109-20623110	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs557806569	chr14:20623117-20623118	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs114741953	chr14:20623126-20623127	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs543415332	chr14:20623134-20623135	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs139104612	chr14:20623137-20623138	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs529128777	chr14:20623143-20623144	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs570803631	chr14:20623150-20623151	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs534680482	chr14:20623199-20623200	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs541314560	chr14:20623209-20623210	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs559723357	chr14:20623235-20623236	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs553347339	chr14:20623249-20623250	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs533144224	chr14:20623251-20623252	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs143171136	chr14:20623274-20623275	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs575139793	chr14:20623276-20623277	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs569741742	chr14:20623366-20623367	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs147505630	chr14:20623370-20623371	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs192912145	chr14:20623392-20623393	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs567260058	chr14:20623400-20623401	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs534370815	chr14:20623412-20623413	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs184649903	chr14:20623449-20623450	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20622200-20622400	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr14:20623000-20624000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr14:20630600-20630800	ZNF genes & repeats	Pancreas	Pancrea

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