Variant report

Variant	esv3377698
Chromosome Location	chr1:80402980-80423084
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145590889	chr1:80410851-80410852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs114475759	chr1:80410868-80410869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537768520	chr1:80410884-80410885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs76184199	chr1:80410886-80410887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs114343575	chr1:80410915-80410916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148878104	chr1:80410935-80410936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562100145	chr1:80410951-80410952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572858904	chr1:80410953-80410954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540135897	chr1:80410980-80410981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546374313	chr1:80411001-80411002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142650538	chr1:80411037-80411038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532214616	chr1:80411042-80411043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557951433	chr1:80411065-80411066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550344045	chr1:80411078-80411079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12046238	chr1:80411088-80411089	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs202230572	chr1:80411102-80411103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529813071	chr1:80411110-80411111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114487066	chr1:80411133-80411134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566467327	chr1:80411153-80411154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191228189	chr1:80411191-80411192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs116530361	chr1:80411212-80411213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571957065	chr1:80411222-80411223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181277481	chr1:80411231-80411232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186263065	chr1:80411240-80411241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs375360172	chr1:80411271-80411272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557551932	chr1:80411277-80411278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369047240	chr1:80411285-80411286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562116759	chr1:80411291-80411292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs76051508	chr1:80411294-80411295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541045841	chr1:80411419-80411420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs56205365	chr1:80411487-80411488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190583163	chr1:80411494-80411495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140677915	chr1:80411519-80411520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574081713	chr1:80411529-80411530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs56035129	chr1:80411574-80411575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144620069	chr1:80411582-80411583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs72688228	chr1:80420204-80420205	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs547752280	chr1:80420222-80420223	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs79774605	chr1:80420234-80420235	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs139444740	chr1:80420251-80420252	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs79523069	chr1:80420265-80420266	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs71645117	chr1:80420293-80420294	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs569711254	chr1:80420321-80420322	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs563990963	chr1:80420337-80420338	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs536752802	chr1:80420345-80420346	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs202231000	chr1:80420350-80420351	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs548665438	chr1:80420370-80420371	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs188646984	chr1:80420377-80420378	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs534305454	chr1:80420379-80420380	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs17104133	chr1:80420407-80420408	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:80410800-80411200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:80411000-80411600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:80420200-80420600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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