Variant report

Variant	esv3378746
Chromosome Location	chr1:103404045-103404488
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 101 )

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	rs2252081	chr1:103404047-103404048	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs72683274	chr1:103404053-103404054	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs190916431	chr1:103404082-103404083	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1975917	chr1:103404107-103404108	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs552795899	chr1:103404150-103404151	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182806052	chr1:103404194-103404195	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1564142	chr1:103404197-103404198	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs76508520	chr1:103404201-103404202	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187187243	chr1:103404210-103404211	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2376262	chr1:103404219-103404220	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs113459092	chr1:103404224-103404225	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114323960	chr1:103404230-103404231	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1564141	chr1:103404236-103404237	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs113001469	chr1:103404252-103404253	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368424654	chr1:103404260-103404261	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs57009972	chr1:103404316-103404317	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs1564140	chr1:103404323-103404324	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs191699710	chr1:103404359-103404360	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571820832	chr1:103404374-103404375	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2126643	chr1:103404384-103404385	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs368417810	chr1:103404388-103404389	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569564128	chr1:103404394-103404395	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536237729	chr1:103404436-103404437	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103369600-103498600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:103386000-103407000	Weak transcription	NH-A	brain
3	chr1:103386200-103482000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:103397800-103414200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:103398600-103407200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr1:103399400-103406800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr1:103399600-103406800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:103400200-103424400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:103400200-103444200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:103400200-103462000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:103400800-103405000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:103400800-103444200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:103403200-103406800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:103403200-103406800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:103403200-103407000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr1:103403400-103404600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:103403600-103412000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr1:103404000-103404600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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