Variant report

Variant	nsv968140
Chromosome Location	chr5:14648902-14653282
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:14366799..14367387-chr5:14648407..14648919,2	K562	blood:
2	chr5:14108776..14109307-chr5:14648451..14649059,2	K562	blood:
3	chr5:14364046..14364977-chr5:14648428..14649312,3	K562	blood:
4	chr5:14398708..14399914-chr5:14648355..14649288,5	MCF-7	breast:
5	chr5:14352294..14352920-chr5:14648683..14649276,2	MCF-7	breast:
6	chr5:13976771..13977506-chr5:14648421..14648943,2	MCF-7	breast:
7	chr5:14352118..14352949-chr5:14648765..14649375,3	K562	blood:
8	chr5:14363978..14364976-chr5:14648837..14649345,2	MCF-7	breast:
9	chr5:13987663..13988894-chr5:14648405..14649724,6	K562	blood:
10	chr5:14405228..14405866-chr5:14648409..14649049,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000038382	chromatin interactions

Extended variants
information (count: 168 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:168 , 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	rs572104768	chr5:14648906-14648907	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs77497098	chr5:14648950-14648951	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs149497	chr5:14648974-14648975	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs370711376	chr5:14649000-14649001	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs152718	chr5:14649033-14649034	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs552077179	chr5:14649095-14649096	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs531438818	chr5:14649120-14649121	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs570671453	chr5:14649166-14649167	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs568437426	chr5:14649182-14649183	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs561959018	chr5:14649187-14649188	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs62344876	chr5:14649188-14649189	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs557566969	chr5:14649206-14649207	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs547317568	chr5:14649220-14649221	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs565625333	chr5:14649267-14649268	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs533026574	chr5:14649297-14649298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181508236	chr5:14649360-14649361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570713073	chr5:14649371-14649372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374632447	chr5:14649386-14649387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76209877	chr5:14649440-14649441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556376970	chr5:14649446-14649447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568663884	chr5:14649457-14649458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569275355	chr5:14649470-14649471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536041456	chr5:14649476-14649477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116485114	chr5:14649571-14649572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572799019	chr5:14649585-14649586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147196357	chr5:14649589-14649590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs202199895	chr5:14649693-14649694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34192990	chr5:14649695-14649696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs367997513	chr5:14649696-14649697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs152759	chr5:14649702-14649703	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs112524890	chr5:14649714-14649715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201512396	chr5:14649760-14649761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113576682	chr5:14649782-14649783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373692279	chr5:14649808-14649809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543551393	chr5:14649858-14649859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561606561	chr5:14649911-14649912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537726371	chr5:14649940-14649941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540582163	chr5:14649941-14649942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562057991	chr5:14649972-14649973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145282763	chr5:14649977-14649978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559096841	chr5:14649980-14649981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533063381	chr5:14650003-14650004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551374237	chr5:14650021-14650022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564548358	chr5:14650025-14650026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531583675	chr5:14650159-14650160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs200171000	chr5:14650197-14650198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550281097	chr5:14650200-14650201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs11551878	chr5:14650226-14650227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568583896	chr5:14650230-14650231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs12658605	chr5:14650233-14650234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Cervical squamous cell carcinoma	21590768	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD
Breast cancer	21364760	CNVD
Non-small cell lung cancer	17643093	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	18940311	CNVD
Central neurocytomas	17123091	CNVD
Mental retardation	17847001	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	19546859	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Williams Syndrome	20824207	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21611746	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14647600-14649200	Enhancers	NHLF	lung
2	chr5:14648600-14649000	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr5:14648800-14650000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:14648800-14655200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr5:14650000-14650600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links