Variant report

Variant	esv3337150
Chromosome Location	chr1:79401818-79402345
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201577511	chr1:79401829-79401830	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs199968216	chr1:79401830-79401831	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34223643	chr1:79401832-79401833	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566517216	chr1:79401851-79401852	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571908399	chr1:79401888-79401889	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541262769	chr1:79401910-79401911	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs61770681	chr1:79401927-79401928	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs370223186	chr1:79401935-79401936	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183827922	chr1:79401953-79401954	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368153934	chr1:79401956-79401957	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571774997	chr1:79401993-79401994	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371640884	chr1:79401998-79401999	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11802443	chr1:79402017-79402018	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs146373967	chr1:79402023-79402024	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368414487	chr1:79402027-79402028	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372399275	chr1:79402036-79402037	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139745742	chr1:79402069-79402070	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369908282	chr1:79402070-79402071	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186250967	chr1:79402079-79402080	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150801612	chr1:79402083-79402084	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199605891	chr1:79402111-79402112	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371818016	chr1:79402130-79402131	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554675550	chr1:79402189-79402190	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79353007	chr1:79402199-79402200	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6664377	chr1:79402210-79402211	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs565070831	chr1:79402230-79402231	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1489396	chr1:79402254-79402255	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs544509751	chr1:79402273-79402274	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115871578	chr1:79402283-79402284	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34029596	chr1:79402325-79402326	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142960426	chr1:79402341-79402342	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Ewing''s sarcoma	17952124	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
Colorectal cancer	16774939	CNVD
Pancreatic endocrine tumor	17639061	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79348600-79405600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:79371600-79404200	Weak transcription	Left Ventricle	heart
3	chr1:79384400-79409000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:79384800-79402200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr1:79398800-79402400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:79399600-79405800	Strong transcription	HUVEC	blood vessel
7	chr1:79399600-79409200	Weak transcription	Adipose Nuclei	Adipose
8	chr1:79400600-79402400	Weak transcription	Osteobl	bone

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