Variant report

Variant	esv3452319
Chromosome Location	chr1:71237194-71240416
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:71240165..71242218-chr1:71510173..71512188,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs66866713	chr1:71238804-71238805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs56999388	chr1:71238805-71238806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558159692	chr1:71238822-71238823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12565629	chr1:71238844-71238845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113851806	chr1:71238862-71238863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547970755	chr1:71238914-71238915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12079059	chr1:71238944-71238945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183139956	chr1:71238954-71238955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534068286	chr1:71238996-71238997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78964776	chr1:71239053-71239054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12058457	chr1:71239057-71239058	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs570382178	chr1:71239113-71239114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12058470	chr1:71239121-71239122	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs552704385	chr1:71239132-71239133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12079164	chr1:71239142-71239143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566319314	chr1:71239144-71239145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535685617	chr1:71239196-71239197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12079179	chr1:71239222-71239223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554741177	chr1:71239298-71239299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574907786	chr1:71239302-71239303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112398475	chr1:71239317-71239318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12079224	chr1:71239329-71239330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113971033	chr1:71239402-71239403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557412131	chr1:71239418-71239419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577565286	chr1:71239551-71239552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546529919	chr1:71239640-71239641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs117249764	chr1:71239654-71239655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573355053	chr1:71239693-71239694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs147610508	chr1:71239723-71239724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188470595	chr1:71239733-71239734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530648721	chr1:71239747-71239748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371282625	chr1:71239783-71239784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550135271	chr1:71239805-71239806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555020096	chr1:71239883-71239884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111270110	chr1:71239904-71239905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142133093	chr1:71239930-71239931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs12566076	chr1:71239931-71239932	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs546484381	chr1:71239944-71239945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566783885	chr1:71239946-71239947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535274650	chr1:71239947-71239948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573747311	chr1:71239966-71239967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs72687033	chr1:71239991-71239992	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs75634098	chr1:71240015-71240016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114746415	chr1:71240016-71240017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192000981	chr1:71240033-71240034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183375369	chr1:71240037-71240038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539889468	chr1:71240141-71240142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149746551	chr1:71240189-71240190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573516117	chr1:71240205-71240206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544954427	chr1:71240216-71240217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71238800-71243400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:71239400-71240000	Enhancers	K562	blood

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