Variant report

Variant	esv3418216
Chromosome Location	chr1:103738648-103739148
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201584662	chr1:103738695-103738696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs199548350	chr1:103738697-103738698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372187656	chr1:103738698-103738699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs66487870	chr1:103738724-103738725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560714943	chr1:103738730-103738731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572952195	chr1:103738740-103738741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555906427	chr1:103738752-103738753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575201322	chr1:103738755-103738756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369966301	chr1:103738771-103738772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377682970	chr1:103738780-103738781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs72997223	chr1:103738821-103738822	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs561290136	chr1:103738829-103738830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189001654	chr1:103738867-103738868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540501675	chr1:103738891-103738892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564870731	chr1:103738983-103738984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs180900793	chr1:103738987-103738988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs3915488	chr1:103739022-103739023	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs202141768	chr1:103739088-103739089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs202026487	chr1:103739090-103739091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200344291	chr1:103739092-103739093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs67659525	chr1:103739095-103739096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs72469687	chr1:103739096-103739097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139034876	chr1:103739097-103739098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Lung cancer	17086460	CNVD
Gastric cancer	16891809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103732400-103741200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:103737600-103741400	Weak transcription	HSMM	muscle
3	chr1:103737800-103744000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr1:103738400-103739200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr1:103738400-103739400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr1:103738600-103739400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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