Variant report

Variant	esv3425142
Chromosome Location	chr1:112811829-112815427
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 122 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199805862	chr1:112811905-112811906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535487588	chr1:112811929-112811930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373426353	chr1:112811944-112811945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12094942	chr1:112812019-112812020	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs565729553	chr1:112812106-112812107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549251030	chr1:112812148-112812149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183448669	chr1:112812177-112812178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559648843	chr1:112812187-112812188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577834406	chr1:112812272-112812273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4531294	chr1:112812289-112812290	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs145312366	chr1:112812320-112812321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188618279	chr1:112812359-112812360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573729740	chr1:112812361-112812362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542353830	chr1:112812416-112812417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs9429673	chr1:112812417-112812418	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs192720943	chr1:112812435-112812436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554377113	chr1:112812442-112812443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545345719	chr1:112812500-112812501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565142877	chr1:112812503-112812504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147244707	chr1:112812508-112812509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139714825	chr1:112812510-112812511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533489336	chr1:112812522-112812523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149775090	chr1:112812534-112812535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528675000	chr1:112812575-112812576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549191977	chr1:112812609-112812610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565762488	chr1:112812617-112812618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs35470067	chr1:112812640-112812641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184344904	chr1:112812647-112812648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs145738400	chr1:112812688-112812689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs72978004	chr1:112812710-112812711	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs537250228	chr1:112812711-112812712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148961208	chr1:112812713-112812714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188437335	chr1:112812737-112812738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144368762	chr1:112812757-112812758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs3128363	chr1:112812855-112812856	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs191628110	chr1:112812860-112812861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146614477	chr1:112812873-112812874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141422789	chr1:112812923-112812924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74692928	chr1:112812943-112812944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114189363	chr1:112812944-112812945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549120023	chr1:112812995-112812996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561172736	chr1:112813080-112813081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555159964	chr1:112813083-112813084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529826246	chr1:112813085-112813086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549476668	chr1:112813108-112813109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375599313	chr1:112813132-112813133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528474071	chr1:112813150-112813151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12097458	chr1:112813152-112813153	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs528207270	chr1:112813169-112813170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184445305	chr1:112813199-112813200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
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
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Asthma	20841430	CNVD
Aetanephric adenomas	20802469	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	21956041	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	16573809	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Breast cancer	17899364	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Melanoma	19671679	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:112788800-112812200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:112808200-112815200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr1:112811000-112812400	Weak transcription	Lung	lung
4	chr1:112811400-112812400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:112811400-112815200	Weak transcription	Right Atrium	heart
6	chr1:112812400-112812600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:112812600-112812800	Enhancers	Lung	lung
8	chr1:112813600-112815200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:112814200-112814400	Enhancers	Brain Hippocampus Middle	brain
10	chr1:112814200-112815800	Enhancers	GM12878-XiMat	blood
11	chr1:112814400-112814600	Enhancers	HSMMtube	muscle
12	chr1:112814400-112815000	Weak transcription	Brain Hippocampus Middle	brain
13	chr1:112815200-112815400	Enhancers	Brain Hippocampus Middle	brain
14	chr1:112815200-112815400	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr1:112815200-112815400	Enhancers	HSMMtube	muscle
16	chr1:112815200-112815600	Enhancers	Right Atrium	heart
17	chr1:112815200-112815800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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