Variant report

Variant	nsv518465
Chromosome Location	chr1:66986377-66988586
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 104 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7354930	chr1:66986377-66986378	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs570009929	chr1:66986387-66986388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540607821	chr1:66986419-66986420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77814867	chr1:66986420-66986421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148468680	chr1:66986449-66986450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182730338	chr1:66986470-66986471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563305697	chr1:66986474-66986475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1338194	chr1:66986476-66986477	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs141784172	chr1:66986482-66986483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs114993522	chr1:66986489-66986490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185521726	chr1:66986516-66986517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs370860120	chr1:66986556-66986557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1338195	chr1:66986557-66986558	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs190034860	chr1:66986578-66986579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370646536	chr1:66986602-66986603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs111690976	chr1:66986606-66986607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537107446	chr1:66986625-66986626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12057623	chr1:66986653-66986654	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs1338196	chr1:66986670-66986671	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs539621791	chr1:66986677-66986678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs12083791	chr1:66986705-66986706	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs7533806	chr1:66986715-66986716	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs182953536	chr1:66986716-66986717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554228508	chr1:66986720-66986721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs7533837	chr1:66986781-66986782	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs77400149	chr1:66986825-66986826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs17129012	chr1:66986867-66986868	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs562199617	chr1:66986872-66986873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs74692861	chr1:66986965-66986966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546013780	chr1:66986979-66986980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113413984	chr1:66986980-66986981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187580123	chr1:66986981-66986982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs193292411	chr1:66987041-66987042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140016185	chr1:66987043-66987044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183921106	chr1:66987067-66987068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376142466	chr1:66987073-66987074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143617412	chr1:66987133-66987134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570595018	chr1:66987151-66987152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2312150	chr1:66987165-66987166	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs146807686	chr1:66987173-66987174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566733405	chr1:66987198-66987199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535741983	chr1:66987217-66987218	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372528930	chr1:66987234-66987235	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556048467	chr1:66987238-66987239	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575877470	chr1:66987273-66987274	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139633716	chr1:66987275-66987276	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1338197	chr1:66987276-66987277	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs577011488	chr1:66987291-66987292	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528072710	chr1:66987326-66987327	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79951442	chr1:66987328-66987329	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	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
Melanoma	17363583	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
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
CNS Malformation Syndrome	17530927	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Colorectal cancer	20459617	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal cancer	21851588	CNVD
abnormal development	18461090	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:66983600-66987200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:66985800-66988000	Enhancers	A549	lung
3	chr1:66986000-66987000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:66986000-66987200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:66986000-66987200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:66986200-66986400	Enhancers	Osteobl	bone
7	chr1:66986200-66989400	Weak transcription	HepG2	liver
8	chr1:66986400-66987000	Weak transcription	Osteobl	bone
9	chr1:66987000-66987200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:66987000-66987200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:66987000-66988000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:66987000-66988200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr1:66987000-66988200	Enhancers	NHLF	lung
14	chr1:66987000-66988400	Enhancers	Osteobl	bone
15	chr1:66987000-66990400	Enhancers	Hela-S3	cervix
16	chr1:66987200-66987600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:66987200-66987800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:66987200-66987800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:66987200-66988000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:66987200-66988200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:66987200-66988200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:66987200-66988200	Enhancers	HMEC	breast
23	chr1:66987200-66988200	Enhancers	NHDF-Ad	bronchial
24	chr1:66987200-66988200	Enhancers	NHEK	skin
25	chr1:66987200-66990200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:66987400-66987800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr1:66987400-66987800	Enhancers	HUVEC	blood vessel
28	chr1:66987400-66987800	Enhancers	NH-A	brain
29	chr1:66987400-66988000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:66987400-66988000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:66987400-66988000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:66987600-66988400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:66987800-66989200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:66987800-66989200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:66987800-66989200	Weak transcription	NH-A	brain
36	chr1:66987800-66992600	Weak transcription	HUVEC	blood vessel
37	chr1:66988000-66989000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:66988000-66990800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:66988000-66993400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:66988200-66989200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:66988200-66989400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr1:66988200-66989400	Weak transcription	NHLF	lung
43	chr1:66988200-66993000	Weak transcription	NHDF-Ad	bronchial
44	chr1:66988400-66991600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:66988400-66998200	Weak transcription	Osteobl	bone

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