Variant report

Variant	esv2613586
Chromosome Location	chr1:76011318-76012936
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs137954989	chr1:76011350-76011351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs449394	chr1:76011382-76011383	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs570150557	chr1:76011422-76011423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35694813	chr1:76011442-76011443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs57147182	chr1:76011510-76011511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374041701	chr1:76011522-76011523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537412388	chr1:76011531-76011532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2748445	chr1:76011592-76011593	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs573670383	chr1:76011605-76011606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188642689	chr1:76011620-76011621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs417652	chr1:76011650-76011651	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs2587040	chr1:76011651-76011652	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs180911826	chr1:76011674-76011675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562265756	chr1:76011688-76011689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576405776	chr1:76011771-76011772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543404995	chr1:76011855-76011856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534199806	chr1:76011932-76011933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562218844	chr1:76011985-76011986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529406076	chr1:76011986-76011987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541122318	chr1:76012004-76012005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559941508	chr1:76012005-76012006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527470016	chr1:76012006-76012007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375875327	chr1:76012066-76012067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370809777	chr1:76012068-76012069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374361826	chr1:76012194-76012195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200051139	chr1:76012195-76012196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143189624	chr1:76012249-76012250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570628724	chr1:76012263-76012264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs211768	chr1:76012264-76012265	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs549471518	chr1:76012323-76012324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544806505	chr1:76012431-76012432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113683244	chr1:76012471-76012472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564833813	chr1:76012495-76012496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528394288	chr1:76012562-76012563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535594141	chr1:76012679-76012680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201165448	chr1:76012726-76012727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539908609	chr1:76012728-76012729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112643079	chr1:76012793-76012794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148260131	chr1:76012818-76012819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs211767	chr1:76012828-76012829	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs2587032	chr1:76012862-76012863	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs576617779	chr1:76012879-76012880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561359129	chr1:76012883-76012884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10157374	chr1:76012889-76012890	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs555523465	chr1:76012895-76012896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573953754	chr1:76012903-76012904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35172780	chr1:76012926-76012927	Weak transcription	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
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76010000-76014200	Weak transcription	HUVEC	blood vessel

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