Variant report

Variant	esv3388354
Chromosome Location	chr1:78708489-78712687
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556835697	chr1:78708512-78708513	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143102319	chr1:78708530-78708531	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542373509	chr1:78708535-78708536	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146048131	chr1:78708595-78708596	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574023064	chr1:78708605-78708606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551686730	chr1:78708623-78708624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541431351	chr1:78708678-78708679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554479541	chr1:78708700-78708701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111907411	chr1:78708705-78708706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545762603	chr1:78708706-78708707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143663231	chr1:78708720-78708721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531136332	chr1:78708830-78708831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576532258	chr1:78708835-78708836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549549700	chr1:78708912-78708913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs17392688	chr1:78708919-78708920	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs528212248	chr1:78708978-78708979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543342743	chr1:78708998-78708999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs36007212	chr1:78709052-78709053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199716507	chr1:78709072-78709073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs71075793	chr1:78709095-78709096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11590424	chr1:78709133-78709134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546655690	chr1:78709178-78709179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562919453	chr1:78709203-78709204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184324430	chr1:78709214-78709215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189099227	chr1:78709220-78709221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181755332	chr1:78709224-78709225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs202194264	chr1:78709226-78709227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186274244	chr1:78709228-78709229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189030333	chr1:78709229-78709230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs180827277	chr1:78709230-78709231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113802500	chr1:78709234-78709235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200427752	chr1:78709243-78709244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377474542	chr1:78709478-78709479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11162439	chr1:78709522-78709523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182576983	chr1:78709736-78709737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7555934	chr1:78710212-78710213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112215737	chr1:78710332-78710333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186558891	chr1:78710551-78710552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192718546	chr1:78710862-78710863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs66527403	chr1:78710892-78710893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541194136	chr1:78711140-78711141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs61779515	chr1:78711237-78711238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112263082	chr1:78711337-78711338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35912161	chr1:78711426-78711427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577989807	chr1:78711444-78711445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545378584	chr1:78711445-78711446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563972374	chr1:78711472-78711473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186064508	chr1:78711488-78711489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543257136	chr1:78711526-78711527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561353817	chr1:78711583-78711584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
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
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
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
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78707200-78722600	Weak transcription	Pancreas	Pancrea
2	chr1:78708400-78708600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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