Variant report

Variant	esv3503737
Chromosome Location	chr1:91913728-91916145
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573866959	chr1:91914621-91914622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs192058296	chr1:91914627-91914628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542347847	chr1:91914646-91914647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs17131446	chr1:91914658-91914659	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs55987981	chr1:91914687-91914688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142033317	chr1:91914761-91914762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529523297	chr1:91914823-91914824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547007976	chr1:91914892-91914893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs392522	chr1:91914992-91914993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7524900	chr1:91915047-91915048	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs529544935	chr1:91915096-91915097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552151584	chr1:91915131-91915132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551012388	chr1:91915132-91915133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564851834	chr1:91915156-91915157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181720508	chr1:91915199-91915200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373108602	chr1:91915257-91915258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566224860	chr1:91915262-91915263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs75252679	chr1:91915276-91915277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs139674745	chr1:91915278-91915279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150065343	chr1:91915287-91915288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187417411	chr1:91915314-91915315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190871541	chr1:91915334-91915335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs578021410	chr1:91915344-91915345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545222519	chr1:91915403-91915404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559342989	chr1:91915463-91915464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560431367	chr1:91915486-91915487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145391328	chr1:91915587-91915588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540372916	chr1:91915603-91915604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562086419	chr1:91915605-91915606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7523206	chr1:91915607-91915608	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs375178829	chr1:91915654-91915655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76268019	chr1:91915690-91915691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370125283	chr1:91915699-91915700	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs74452048	chr1:91915729-91915730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182350845	chr1:91915773-91915774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551547744	chr1:91915775-91915776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186681279	chr1:91915776-91915777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533616837	chr1:91915799-91915800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189766019	chr1:91915857-91915858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567943831	chr1:91915875-91915876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554839156	chr1:91915945-91915946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567391280	chr1:91916018-91916019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs370817213	chr1:91916096-91916097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537422984	chr1:91916113-91916114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Medulloblastoma	21979893	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
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
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:91914600-91916000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:91915000-91915600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:91915000-91916000	Enhancers	Fetal Stomach	stomach
4	chr1:91915000-91916400	Enhancers	Hela-S3	cervix
5	chr1:91915200-91915400	Enhancers	Fetal Kidney	kidney
6	chr1:91915200-91916000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:91915200-91916000	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr1:91915400-91916000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:91915400-91916000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:91915400-91916200	Enhancers	Fetal Lung	lung
11	chr1:91915600-91920000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:91916000-91916400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:91916000-91919000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:91916000-91919400	Weak transcription	Fetal Stomach	stomach
15	chr1:91916000-91919600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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