Variant report

Variant	esv3337414
Chromosome Location	chr1:72812514-72816112
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570288243	chr1:72812533-72812534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs139133085	chr1:72812566-72812567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185037912	chr1:72812623-72812624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2613494	chr1:72812657-72812658	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs111773213	chr1:72812681-72812682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538928563	chr1:72812689-72812690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552623659	chr1:72812691-72812692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2568961	chr1:72812747-72812748	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs113423035	chr1:72812770-72812771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534584705	chr1:72812777-72812778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560599780	chr1:72812793-72812794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574590092	chr1:72812851-72812852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370885138	chr1:72812853-72812854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188996916	chr1:72812855-72812856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557010960	chr1:72812934-72812935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149931954	chr1:72812988-72812989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545666257	chr1:72813016-72813017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558928181	chr1:72813029-72813030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6682389	chr1:72813057-72813058	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs541566389	chr1:72813077-72813078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192258957	chr1:72813102-72813103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1460943	chr1:72813129-72813130	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs146498522	chr1:72813130-72813131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187930528	chr1:72813158-72813159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1432639	chr1:72813218-72813219	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs552862384	chr1:72813254-72813255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1460942	chr1:72813256-72813257	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs1460941	chr1:72813326-72813327	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs75078907	chr1:72813344-72813345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184038798	chr1:72813399-72813400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537117875	chr1:72813410-72813411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557143840	chr1:72813476-72813477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs146781849	chr1:72813556-72813557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553897024	chr1:72816043-72816044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573525842	chr1:72816070-72816071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535651766	chr1:72816078-72816079	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72811400-72813400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:72813400-72813600	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr1:72816000-72816400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:72816000-72816600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:72816000-72816600	Enhancers	NHEK	skin

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