Variant report

Variant	esv3452449
Chromosome Location	chr1:120012714-120013712
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147516215	chr1:120012768-120012769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12087660	chr1:120012786-120012787	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs10802097	chr1:120012789-120012790	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs587735860	chr1:120012823-120012824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10802098	chr1:120012825-120012826	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs10802099	chr1:120012852-120012853	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs186611249	chr1:120012911-120012912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs587605604	chr1:120012920-120012921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191403781	chr1:120012925-120012926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183980226	chr1:120012958-120012959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190008124	chr1:120012985-120012986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140051104	chr1:120013063-120013064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs587732073	chr1:120013098-120013099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10923836	chr1:120013102-120013103	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs587661499	chr1:120013133-120013134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs587729056	chr1:120013137-120013138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs34604707	chr1:120013164-120013165	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs587703079	chr1:120013281-120013282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144319659	chr1:120013319-120013320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs72693130	chr1:120013323-120013324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs587696470	chr1:120013338-120013339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs72693132	chr1:120013376-120013377	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs181506207	chr1:120013377-120013378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185300243	chr1:120013442-120013443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190271292	chr1:120013443-120013444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs587642745	chr1:120013468-120013469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376514073	chr1:120013505-120013506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147366766	chr1:120013544-120013545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115036358	chr1:120013547-120013548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs367649335	chr1:120013580-120013581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116692084	chr1:120013597-120013598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201050425	chr1:120013603-120013604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114263727	chr1:120013681-120013682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Wilms tumour	21544195	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
Glioblastoma multiforme	21080181	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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	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
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
Aetanephric adenomas	20802469	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Systemic lupus erythematosus	21956041	CNVD
Breast cancer	21804112	CNVD
Mental retardation	21062444	CNVD
Myelofibrosis	22110671	CNVD
Emphysema	19352772	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21858162	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120010200-120015600	Weak transcription	Placenta	Placenta
2	chr1:120010600-120014600	Weak transcription	Fetal Lung	lung
3	chr1:120011200-120018400	Weak transcription	Pancreas	Pancrea
4	chr1:120012000-120014200	Weak transcription	Fetal Stomach	stomach
5	chr1:120012000-120018400	Weak transcription	Fetal Intestine Small	intestine
6	chr1:120012200-120013200	Enhancers	HMEC	breast
7	chr1:120012200-120017200	Weak transcription	Liver	Liver
8	chr1:120012400-120013000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:120012400-120015400	Weak transcription	Fetal Intestine Large	intestine

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