Variant report

Variant	esv3427858
Chromosome Location	chr1:102071506-102072102
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529442858	chr1:102071538-102071539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs12068329	chr1:102071565-102071566	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs117982752	chr1:102071591-102071592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs74494798	chr1:102071634-102071635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11164245	chr1:102071635-102071636	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs570416012	chr1:102071651-102071652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537587417	chr1:102071696-102071697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556173611	chr1:102071715-102071716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373802992	chr1:102071716-102071717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375914377	chr1:102071725-102071726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143271338	chr1:102071734-102071735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11164246	chr1:102071779-102071780	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs553671494	chr1:102071815-102071816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572035390	chr1:102071839-102071840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570455481	chr1:102071862-102071863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11164247	chr1:102071863-102071864	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs556407762	chr1:102071908-102071909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557771789	chr1:102071938-102071939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576382042	chr1:102071993-102071994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543555710	chr1:102071999-102072000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111889196	chr1:102072037-102072038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs377554607	chr1:102072049-102072050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147417576	chr1:102072085-102072086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547143400	chr1:102072095-102072096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12074808	chr1:102072102-102072103	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:103)

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
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	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
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
low-grade B-cell lymphoma tumor	18367492	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
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:102070800-102072200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:102070800-102072600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:102071000-102072800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:102071000-102072800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:102071200-102071600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:102071400-102071800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:102071800-102072000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:102072000-102072400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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