Variant report

Variant	esv2551120
Chromosome Location	chr1:86740604-86742651
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6576830	chr1:86740650-86740651	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543220538	chr1:86740662-86740663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559660180	chr1:86740673-86740674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs367754369	chr1:86740704-86740705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530129484	chr1:86740724-86740725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528697525	chr1:86740751-86740752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7542041	chr1:86740759-86740760	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs565379160	chr1:86740849-86740850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530813620	chr1:86740864-86740865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558375084	chr1:86740867-86740868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190991020	chr1:86740891-86740892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201443788	chr1:86740896-86740897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565730168	chr1:86740918-86740919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371065879	chr1:86740985-86740986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs202154367	chr1:86740987-86740988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372256638	chr1:86740989-86740990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113709875	chr1:86741129-86741130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534358715	chr1:86741668-86741669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374442585	chr1:86741692-86741693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs367791346	chr1:86741695-86741696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371700421	chr1:86741696-86741697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200357684	chr1:86741697-86741698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372474836	chr1:86741732-86741733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6658569	chr1:86741783-86741784	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs182011510	chr1:86741806-86741807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79005158	chr1:86741873-86741874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529968128	chr1:86741899-86741900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546897467	chr1:86741903-86741904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566516275	chr1:86741941-86741942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186507400	chr1:86741985-86741986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190902044	chr1:86742121-86742122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569014180	chr1:86742155-86742156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537825226	chr1:86742156-86742157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554633109	chr1:86742187-86742188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368927395	chr1:86742188-86742189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574823138	chr1:86742208-86742209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574505527	chr1:86742245-86742246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143930326	chr1:86742246-86742247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573541970	chr1:86742275-86742276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144838540	chr1:86742382-86742383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573306822	chr1:86742408-86742409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546729401	chr1:86742456-86742457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545628168	chr1:86742508-86742509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs371326668	chr1:86742602-86742603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs575370123	chr1:86742604-86742605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs544180648	chr1:86742629-86742630	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
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
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Non-muscle invasive bladder neoplasm	19445696	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
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	16397240	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86738000-86742400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:86742200-86743800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:86742400-86744200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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