Variant report

Variant	esv3352519
Chromosome Location	chr1:72672864-72679262
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536441674	chr1:72672890-72672891	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs111863487	chr1:72672891-72672892	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183862046	chr1:72672972-72672973	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187736931	chr1:72672974-72672975	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558234944	chr1:72672975-72672976	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572129556	chr1:72672978-72672979	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs116451760	chr1:72673046-72673047	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs2821283	chr1:72673061-72673062	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs192529885	chr1:72673119-72673120	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs116234446	chr1:72673170-72673171	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs2797540	chr1:72673194-72673195	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs371848578	chr1:72673258-72673259	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs545400803	chr1:72673276-72673277	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs565106568	chr1:72673309-72673310	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs555426329	chr1:72673356-72673357	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs77291771	chr1:72673366-72673367	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs142688595	chr1:72673367-72673368	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs76923802	chr1:72673396-72673397	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs185103962	chr1:72673405-72673406	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs543178122	chr1:72673461-72673462	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs146525241	chr1:72673471-72673472	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs140990094	chr1:72673478-72673479	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs538909842	chr1:72673481-72673482	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs558796063	chr1:72673500-72673501	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs143391205	chr1:72673525-72673526	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs534599058	chr1:72673528-72673529	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs112667910	chr1:72673550-72673551	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs554412540	chr1:72673559-72673560	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs373886929	chr1:72673588-72673589	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs1858601	chr1:72674434-72674435	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs539220776	chr1:72674439-72674440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558991392	chr1:72674447-72674448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547902766	chr1:72674478-72674479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs572660308	chr1:72674482-72674483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs1858600	chr1:72674489-72674490	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs561240475	chr1:72674544-72674545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs140498980	chr1:72674576-72674577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs150440674	chr1:72674580-72674581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563760151	chr1:72674628-72674629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs532250970	chr1:72674630-72674631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552299629	chr1:72674667-72674668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559394895	chr1:72674679-72674680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564321062	chr1:72674710-72674711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184654604	chr1:72674753-72674754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547804486	chr1:72674776-72674777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567745520	chr1:72674834-72674835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536634233	chr1:72674835-72674836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550308904	chr1:72674836-72674837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570480987	chr1:72674845-72674846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547242431	chr1:72674867-72674868	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72672200-72673000	Enhancers	HepG2	liver
2	chr1:72672800-72673600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:72674400-72675000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:72678000-72678400	Enhancers	Colon Smooth Muscle	Colon

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