Variant report

Variant	esv3450526
Chromosome Location	chr1:71750064-71754662
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 125 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543687234	chr1:71750094-71750095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566618001	chr1:71750203-71750204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs367709500	chr1:71750250-71750251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530779710	chr1:71750292-71750293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544227804	chr1:71750300-71750301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535502575	chr1:71750340-71750341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs77455192	chr1:71750350-71750351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12749022	chr1:71750361-71750362	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs538119383	chr1:71750395-71750396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35851987	chr1:71750420-71750421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs61777297	chr1:71750426-71750427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375814670	chr1:71750493-71750494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs72674917	chr1:71750561-71750562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs578128360	chr1:71750574-71750575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191062859	chr1:71750575-71750576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560339378	chr1:71750593-71750594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183981966	chr1:71750706-71750707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187722054	chr1:71750745-71750746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191101194	chr1:71750836-71750837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531657420	chr1:71750904-71750905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140607620	chr1:71750907-71750908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145836516	chr1:71750921-71750922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527534190	chr1:71750939-71750940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547185896	chr1:71750961-71750962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566626563	chr1:71750973-71750974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370174811	chr1:71750979-71750980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539480133	chr1:71750983-71750984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369916967	chr1:71750990-71750991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535514684	chr1:71750996-71750997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548979097	chr1:71751026-71751027	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs569128041	chr1:71751039-71751040	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs373333431	chr1:71751043-71751044	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs138278251	chr1:71751136-71751137	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs182464035	chr1:71751143-71751144	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs534398541	chr1:71751151-71751152	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs547048150	chr1:71751179-71751180	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs563765743	chr1:71751188-71751189	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs370869513	chr1:71751191-71751192	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs542718557	chr1:71751227-71751228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7415084	chr1:71751307-71751308	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs2639328	chr1:71751386-71751387	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs572943345	chr1:71751450-71751451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533547857	chr1:71751459-71751460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143405739	chr1:71751473-71751474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs80007420	chr1:71751479-71751480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187189225	chr1:71751544-71751545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113518148	chr1:71751545-71751546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201954166	chr1:71751634-71751635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148368626	chr1:71751636-71751637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529367637	chr1:71751717-71751718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

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

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71742400-71751000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:71751000-71751200	ZNF genes & repeats	Pancreas	Pancrea
3	chr1:71751000-71751400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:71751000-71751400	Enhancers	HMEC	breast
5	chr1:71751200-71754000	Weak transcription	Pancreas	Pancrea

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