Variant report

Variant	esv1795290
Chromosome Location	chr1:80233281-80243226
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	chr1:80236464..80239365-chr1:80242277..80244364,2	K562	blood:
2	chr1:80236464..80239365-chr1:80242277..80244364,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7555387	chr1:80242036-80242037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528334151	chr1:80242096-80242097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540432320	chr1:80242108-80242109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529041407	chr1:80242157-80242158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532338383	chr1:80242161-80242162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7555511	chr1:80242227-80242228	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs568840842	chr1:80242230-80242231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376221786	chr1:80242250-80242251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185394657	chr1:80242255-80242256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547831425	chr1:80242284-80242285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567950189	chr1:80242290-80242291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs66826514	chr1:80242305-80242306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370006556	chr1:80242307-80242308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs398102926	chr1:80242309-80242310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs58813042	chr1:80242324-80242325	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs557360631	chr1:80242343-80242344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546878345	chr1:80242362-80242363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146422137	chr1:80242369-80242370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189110519	chr1:80242395-80242396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538824642	chr1:80242419-80242420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138072488	chr1:80242425-80242426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192208394	chr1:80242456-80242457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557604250	chr1:80242490-80242491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs10874073	chr1:80242510-80242511	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs74964317	chr1:80242524-80242525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573188954	chr1:80242535-80242536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184588669	chr1:80242577-80242578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs74615443	chr1:80242587-80242588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs12023389	chr1:80242598-80242599	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs528558619	chr1:80242657-80242658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544394382	chr1:80242658-80242659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562620876	chr1:80242731-80242732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529705696	chr1:80242818-80242819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs548261201	chr1:80242821-80242822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188482130	chr1:80242840-80242841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553665055	chr1:80242854-80242855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs527275550	chr1:80242864-80242865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546915261	chr1:80242949-80242950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs12024204	chr1:80243001-80243002	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
40	rs538862698	chr1:80243007-80243008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542440029	chr1:80243019-80243020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs17103689	chr1:80243030-80243031	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs181325412	chr1:80243034-80243035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536393523	chr1:80243041-80243042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs116396113	chr1:80243089-80243090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs115823454	chr1:80243103-80243104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534163748	chr1:80243104-80243105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs386632759	chr1:80243116-80243117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs7556171	chr1:80243117-80243118	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs376850518	chr1:80243137-80243138	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Colorectal cancer	16774939	CNVD
Pancreatic endocrine tumor	17639061	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:80242000-80243800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:80243000-80243400	Enhancers	Fetal Heart	heart
3	chr1:80243000-80243800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:80243000-80244600	Enhancers	GM12878-XiMat	blood
5	chr1:80243200-80244000	Enhancers	Primary B cells from peripheral blood	blood

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