Variant report

Variant	esv3453687
Chromosome Location	chr1:57949457-57950912
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 94 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146085575	chr1:57949461-57949462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557057149	chr1:57949473-57949474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187888239	chr1:57949488-57949489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs61768066	chr1:57949501-57949502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573699128	chr1:57949511-57949512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542671514	chr1:57949520-57949521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552914374	chr1:57949552-57949553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573092279	chr1:57949574-57949575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs193102761	chr1:57949622-57949623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537050113	chr1:57949672-57949673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78941320	chr1:57949674-57949675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182655218	chr1:57949703-57949704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543527418	chr1:57949742-57949743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148334598	chr1:57949819-57949820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529326029	chr1:57949835-57949836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549001361	chr1:57949868-57949869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs113024919	chr1:57949896-57949897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559051559	chr1:57949904-57949905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150763446	chr1:57949908-57949909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552008470	chr1:57949937-57949938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187658838	chr1:57949964-57949965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537611514	chr1:57949991-57949992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192765522	chr1:57950031-57950032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116833637	chr1:57950042-57950043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567400209	chr1:57950068-57950069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs111686138	chr1:57950130-57950131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536341830	chr1:57950137-57950138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552743454	chr1:57950176-57950177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs60813506	chr1:57950281-57950282	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs538567104	chr1:57950284-57950285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570613058	chr1:57950381-57950382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs115366391	chr1:57950391-57950392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs77921522	chr1:57950405-57950406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553564664	chr1:57950492-57950493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs6679102	chr1:57950556-57950557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560734397	chr1:57950558-57950559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573836808	chr1:57950570-57950571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs139147406	chr1:57950577-57950578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs145273865	chr1:57950596-57950597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs183912635	chr1:57950601-57950602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114844207	chr1:57950658-57950659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs115684833	chr1:57950661-57950662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565603860	chr1:57950664-57950665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs188697972	chr1:57950697-57950698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531213925	chr1:57950718-57950719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs144139164	chr1:57950842-57950843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs200943248	chr1:57950850-57950851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs147356513	chr1:57950851-57950852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs146528809	chr1:57950852-57950853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs60375797	chr1:57950859-57950860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
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
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
Meckel-Gruber syndrome	21572526	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	16616336	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	19490664	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	22522925	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57940200-57949600	Weak transcription	NHDF-Ad	bronchial
2	chr1:57940800-57954800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:57943200-57955200	Weak transcription	Stomach Mucosa	stomach
4	chr1:57945400-57949600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:57949400-57949600	Enhancers	Hela-S3	cervix
6	chr1:57949400-57949800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:57949400-57950000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:57949600-57949800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr1:57949600-57949800	Enhancers	NH-A	brain
10	chr1:57949600-57949800	Enhancers	NHEK	skin
11	chr1:57949600-57950000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:57949600-57950000	Enhancers	NHLF	lung
13	chr1:57949600-57950800	Weak transcription	Hela-S3	cervix
14	chr1:57949600-57952200	Enhancers	NHDF-Ad	bronchial
15	chr1:57949800-57951000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:57949800-57951200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:57949800-57951200	Weak transcription	NH-A	brain
18	chr1:57949800-57954600	Weak transcription	NHEK	skin
19	chr1:57950000-57950400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:57950000-57951200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:57950000-57951200	Weak transcription	NHLF	lung
22	chr1:57950400-57951800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:57950800-57952400	Enhancers	Hela-S3	cervix

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