Variant report

Variant	esv3436415
Chromosome Location	chr1:56623664-56625062
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188294011	chr1:56623677-56623678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572336000	chr1:56623749-56623750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535034807	chr1:56623766-56623767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557945424	chr1:56623779-56623780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs578052293	chr1:56623785-56623786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574976067	chr1:56623795-56623796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113143981	chr1:56623875-56623876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs778386	chr1:56623915-56623916	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs542897210	chr1:56623973-56623974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560011267	chr1:56623984-56623985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531248282	chr1:56623989-56623990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182966449	chr1:56623991-56623992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547943135	chr1:56623993-56623994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1304824	chr1:56624014-56624015	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs564786586	chr1:56624015-56624016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530609977	chr1:56624027-56624028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188063949	chr1:56624041-56624042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570986550	chr1:56624085-56624086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs778387	chr1:56624095-56624096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371164664	chr1:56624109-56624110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs28546152	chr1:56624119-56624120	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
22	rs201942614	chr1:56624120-56624121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12025709	chr1:56624128-56624129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12025723	chr1:56624130-56624131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529952519	chr1:56624131-56624132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11485599	chr1:56624132-56624133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373508134	chr1:56624139-56624140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375515061	chr1:56624141-56624142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376201448	chr1:56624143-56624144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs28678508	chr1:56624150-56624151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12025729	chr1:56624165-56624166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191451416	chr1:56624287-56624288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183653263	chr1:56624333-56624334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536102555	chr1:56624350-56624351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534664104	chr1:56624382-56624383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539506254	chr1:56624389-56624390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111403171	chr1:56624425-56624426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4926710	chr1:56624427-56624428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541505502	chr1:56624428-56624429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537145329	chr1:56624462-56624463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34506922	chr1:56624466-56624467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146878147	chr1:56624479-56624480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187968594	chr1:56624525-56624526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs72912224	chr1:56624556-56624557	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs553342579	chr1:56624567-56624568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573489010	chr1:56624585-56624586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545416388	chr1:56624597-56624598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145628611	chr1:56624667-56624668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs115476456	chr1:56624744-56624745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544311150	chr1:56624747-56624748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Prostate cancer	18632612	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
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	19490664	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56619400-56624800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:56621400-56624000	Enhancers	Dnd41	blood
3	chr1:56622400-56624000	Enhancers	Fetal Thymus	thymus
4	chr1:56622600-56623800	Enhancers	Thymus	Thymus
5	chr1:56622600-56624000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:56622600-56624000	Enhancers	Primary T cells from cord blood	blood
7	chr1:56623400-56624600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:56623600-56626400	Weak transcription	Fetal Kidney	kidney
9	chr1:56623800-56624800	Weak transcription	Thymus	Thymus
10	chr1:56624000-56624400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:56624400-56625400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:56624600-56625000	Enhancers	Placenta Amnion	Placenta Amnion
13	chr1:56624600-56625200	Enhancers	Right Atrium	heart
14	chr1:56624800-56625000	Enhancers	Thymus	Thymus
15	chr1:56624800-56625200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:56625000-56633000	Weak transcription	Placenta Amnion	Placenta Amnion

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