Variant report

Variant	nsv470990
Chromosome Location	chr5:12765292-12787094
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:12760900..12763053-chr5:12763056..12765696,2	K562	blood:
2	chr5:12576312..12579149-chr5:12776108..12778231,2	K562	blood:
3	chr5:12780362..12783052-chr5:12785644..12787505,2	K562	blood:
4	chr5:12779777..12782009-chr5:12783141..12784661,2	MCF-7	breast:
5	chr5:12778478..12781516-chr5:12781802..12783481,3	K562	blood:
6	chr5:12779777..12782009-chr5:12783141..12784661,2	MCF-7	breast:
7	chr5:12780362..12783052-chr5:12785644..12787505,2	K562	blood:
8	chr5:12579463..12582015-chr5:12766907..12769227,3	K562	blood:
9	chr5:12778478..12781516-chr5:12781802..12783481,3	K562	blood:
10	chr5:12768829..12771225-chr5:12773503..12776685,3	K562	blood:
11	chr5:12768829..12771225-chr5:12773503..12776685,3	K562	blood:

No data

Extended variants
information (count: 61 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572679300	chr5:12772061-12772062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577379958	chr5:12772065-12772066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544907432	chr5:12772072-12772073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563575522	chr5:12772083-12772084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78238778	chr5:12772132-12772133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10061178	chr5:12772172-12772173	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs10068230	chr5:12772190-12772191	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs150623815	chr5:12772225-12772226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546691080	chr5:12772247-12772248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs115138880	chr5:12772252-12772253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs59817778	chr5:12772257-12772258	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs550938781	chr5:12772278-12772279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189824772	chr5:12772314-12772315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs536505269	chr5:12772316-12772317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371910190	chr5:12772367-12772368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532999446	chr5:12772375-12772376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555246414	chr5:12772376-12772377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374198560	chr5:12772406-12772407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551497932	chr5:12772409-12772410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533944054	chr5:12772423-12772424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs377361283	chr5:12772425-12772426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576949803	chr5:12772436-12772437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528081780	chr5:12772451-12772452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114465061	chr5:12772524-12772525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563379056	chr5:12772527-12772528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575408092	chr5:12772534-12772535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542513195	chr5:12772569-12772570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs181375774	chr5:12772578-12772579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528057297	chr5:12772584-12772585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546654438	chr5:12772604-12772605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs13164269	chr5:12772609-12772610	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs139674243	chr5:12772660-12772661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550658351	chr5:12772689-12772690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs185360180	chr5:12772699-12772700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551448324	chr5:12772716-12772717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569804734	chr5:12772750-12772751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530338260	chr5:12772776-12772777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs144741965	chr5:12772777-12772778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189777757	chr5:12772796-12772797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs61641608	chr5:12772799-12772800	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs535217392	chr5:12772848-12772849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558572583	chr5:12772869-12772870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs570915924	chr5:12772901-12772902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs367674586	chr5:12772966-12772967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141637953	chr5:12773171-12773172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs144463697	chr5:12773192-12773193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs193182844	chr5:12778215-12778216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540815635	chr5:12778216-12778217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs10462587	chr5:12778299-12778300	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs549188038	chr5:12778320-12778321	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Breast cancer	21364760	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
Acute lymphoblastic leukemia	22237106	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
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
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:12772000-12773200	Enhancers	K562	blood
2	chr5:12778200-12778600	Enhancers	Fetal Brain Female	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links