Variant report

Variant	esv3431526
Chromosome Location	chr1:57972644-57973157
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:57972252..57973978-chr1:58083473..58085053,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 94 )

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	rs566105247	chr1:57972673-57972674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140482798	chr1:57972681-57972682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12407168	chr1:57972683-57972684	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs559061371	chr1:57972684-57972685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374945944	chr1:57972697-57972698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543869876	chr1:57972797-57972798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560573409	chr1:57972799-57972800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529669507	chr1:57972820-57972821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539827638	chr1:57972828-57972829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs6659040	chr1:57972841-57972842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560229794	chr1:57972842-57972843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554900469	chr1:57972863-57972864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532435831	chr1:57972875-57972876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570060685	chr1:57972876-57972877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs180905034	chr1:57972884-57972885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113249193	chr1:57972905-57972906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2805882	chr1:57972920-57972921	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs531046283	chr1:57972927-57972928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551119827	chr1:57972936-57972937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150009923	chr1:57972937-57972938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185531028	chr1:57973038-57973039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553399459	chr1:57973090-57973091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2691434	chr1:57973116-57973117	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs377754969	chr1:57973122-57973123	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539278346	chr1:57973127-57973128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
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
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
Melanoma	17363583	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
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Meckel-Gruber syndrome	21572526	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	16616336	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	19490664	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	22522925	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57955200-57972800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:57971400-57974800	Weak transcription	Fetal Brain Female	brain
3	chr1:57972800-57973400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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