Variant report

Variant	nsv946092
Chromosome Location	chr1:93511551-93522478
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:93509911..93511980-chr1:93544557..93546236,2	K562	blood:
2	chr1:93516477..93519592-chr1:93550501..93553219,3	K562	blood:
3	chr1:93507541..93509653-chr1:93511685..93513516,2	K562	blood:
4	chr1:93518072..93519593-chr1:93543100..93545883,2	K562	blood:
5	chr1:93510480..93512269-chr1:93543965..93546057,2	K562	blood:

Variant related genes	Relation type
ENSG00000143033	chromatin interactions

Extended variants
information (count: 287 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:287 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560331432	chr1:93511554-93511555	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs527392880	chr1:93511586-93511587	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs148270582	chr1:93511620-93511621	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs201295998	chr1:93511671-93511672	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs6667428	chr1:93511740-93511741	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs529431845	chr1:93511755-93511756	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs34711477	chr1:93511764-93511765	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs551290770	chr1:93511812-93511813	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs141305133	chr1:93511813-93511814	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
10	rs539493908	chr1:93511823-93511824	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs551350608	chr1:93511824-93511825	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs566485987	chr1:93511866-93511867	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs2815416	chr1:93511935-93511936	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs556959873	chr1:93511953-93511954	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs555547983	chr1:93511984-93511985	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs567491014	chr1:93512104-93512105	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs35272856	chr1:93512163-93512164	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs35202459	chr1:93512164-93512165	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs537624325	chr1:93512207-93512208	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs577138073	chr1:93512215-93512216	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs548300533	chr1:93512223-93512224	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs376350507	chr1:93512265-93512266	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs539666206	chr1:93512316-93512317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186268997	chr1:93512339-93512340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191079725	chr1:93512354-93512355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181815720	chr1:93512386-93512387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571918039	chr1:93512423-93512424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147246572	chr1:93512434-93512435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140686968	chr1:93512451-93512452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541676	chr1:93512499-93512500	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs572582333	chr1:93512526-93512527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544475835	chr1:93512532-93512533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562883589	chr1:93512637-93512638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533453358	chr1:93512644-93512645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12119421	chr1:93512672-93512673	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs144739629	chr1:93512744-93512745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115483413	chr1:93512755-93512756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs517856	chr1:93512762-93512763	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs567654397	chr1:93512764-93512765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs966038	chr1:93512806-93512807	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs186923247	chr1:93512814-93512815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147479960	chr1:93512866-93512867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139374356	chr1:93512874-93512875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554074631	chr1:93512887-93512888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs71094219	chr1:93512912-93512913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs63562561	chr1:93512922-93512923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34007847	chr1:93512923-93512924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs398053227	chr1:93512933-93512934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572041849	chr1:93512953-93512954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371068781	chr1:93512998-93512999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Prostate cancer	19156837	CNVD
Autism	17483303	CNVD
Malignant melanoma	17260012	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93508400-93513200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:93513200-93513400	Enhancers	Sigmoid Colon	Sigmoid Colon
3	chr1:93517400-93518600	Enhancers	K562	blood
4	chr1:93517400-93519000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:93517600-93518800	Enhancers	Dnd41	blood
6	chr1:93518800-93519200	Weak transcription	Dnd41	blood
7	chr1:93519200-93519400	Enhancers	Dnd41	blood
8	chr1:93519400-93525800	Weak transcription	Dnd41	blood

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