Variant report

Variant	esv3402913
Chromosome Location	chr1:72393114-72395312
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 169 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:169 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550765347	chr1:72393135-72393136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571027868	chr1:72393136-72393137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540140725	chr1:72393142-72393143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs71651498	chr1:72393147-72393148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558904612	chr1:72393187-72393188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553072485	chr1:72393204-72393205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs71651499	chr1:72393212-72393213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573236409	chr1:72393240-72393241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190687516	chr1:72393251-72393252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs71651500	chr1:72393261-72393262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139080708	chr1:72393298-72393299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182929606	chr1:72393327-72393328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564324177	chr1:72393345-72393346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577845973	chr1:72393351-72393352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550828972	chr1:72393362-72393363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12039110	chr1:72393388-72393389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540547011	chr1:72393389-72393390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1648265	chr1:72393415-72393416	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs528894356	chr1:72393421-72393422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144053914	chr1:72393433-72393434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562197106	chr1:72393461-72393462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531326588	chr1:72393464-72393465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550859213	chr1:72393465-72393466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191910866	chr1:72393484-72393485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569185380	chr1:72393492-72393493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12039140	chr1:72393500-72393501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs71770519	chr1:72393532-72393533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35429988	chr1:72393534-72393535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147895793	chr1:72393538-72393539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12062527	chr1:72393543-72393544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12062531	chr1:72393576-72393577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547312333	chr1:72393589-72393590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558321128	chr1:72393607-72393608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183007733	chr1:72393640-72393641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs67734277	chr1:72393650-72393651	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs555822464	chr1:72393664-72393665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575776862	chr1:72393665-72393666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369950257	chr1:72393676-72393677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146410680	chr1:72393699-72393700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369528127	chr1:72393710-72393711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555586662	chr1:72393711-72393712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577814079	chr1:72393712-72393713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540145239	chr1:72393735-72393736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560352768	chr1:72393743-72393744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12083157	chr1:72393744-72393745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542187888	chr1:72393754-72393755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562160130	chr1:72393756-72393757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145366825	chr1:72393759-72393760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376141698	chr1:72393762-72393763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531290146	chr1:72393779-72393780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
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
Pancreatic cancer	17952125	CNVD
body mass index	19812545	CNVD
Obesity	20935630	CNVD
Breast cancer	22522925	CNVD
Recurrent pregnancy loss	19789632	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72389800-72409600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr1:72392200-72393400	Enhancers	Dnd41	blood

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