Variant report

Variant	esv3420020
Chromosome Location	chr1:92132164-92136662
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	chr1:92136285..92138892-chr1:92215069..92217009,2	K562	blood:

Extended variants
information (count: 217 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:217 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571362008	chr1:92132205-92132206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138111473	chr1:92132273-92132274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs146707215	chr1:92132322-92132323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs367844798	chr1:92132323-92132324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs200655332	chr1:92132324-92132325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553758468	chr1:92132338-92132339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185213621	chr1:92132359-92132360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536517213	chr1:92132364-92132365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149526411	chr1:92132367-92132368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374989293	chr1:92132410-92132411	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189654814	chr1:92132412-92132413	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116061148	chr1:92132419-92132420	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113690653	chr1:92132425-92132426	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144681055	chr1:92132437-92132438	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148079855	chr1:92132443-92132444	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546078312	chr1:92132476-92132477	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559668385	chr1:92132484-92132485	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs397860609	chr1:92132499-92132500	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs370128493	chr1:92132562-92132563	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs55870747	chr1:92132591-92132592	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs12119475	chr1:92132594-92132595	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs572120372	chr1:92132623-92132624	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs58420687	chr1:92132672-92132673	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs71650458	chr1:92132699-92132700	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs542895237	chr1:92132741-92132742	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs181113783	chr1:92132748-92132749	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs531804694	chr1:92132797-92132798	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs186757399	chr1:92132864-92132865	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs191819720	chr1:92132886-92132887	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs370959701	chr1:92132900-92132901	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs532208965	chr1:92132987-92132988	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs372832770	chr1:92132998-92132999	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs565665087	chr1:92133045-92133046	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs374224333	chr1:92133080-92133081	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs13374218	chr1:92133092-92133093	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs147281789	chr1:92133133-92133134	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs536953676	chr1:92133135-92133136	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs558669944	chr1:92133153-92133154	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs562926357	chr1:92133170-92133171	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs538712895	chr1:92133195-92133196	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs184060805	chr1:92133257-92133258	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs553882143	chr1:92133269-92133270	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs528616313	chr1:92133274-92133275	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs201947241	chr1:92133301-92133302	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs186190768	chr1:92133330-92133331	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs542657889	chr1:92133338-92133339	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs200720007	chr1:92133359-92133360	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs561136635	chr1:92133360-92133361	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs61778507	chr1:92133416-92133417	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs140811923	chr1:92133423-92133424	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Medulloblastoma	21979893	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
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
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Prostate cancer	19156837	CNVD
Autism	17483303	CNVD
Malignant melanoma	17260012	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92131600-92132400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:92132200-92132600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr1:92132400-92133800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:92132800-92134000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:92133800-92134200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:92133800-92134200	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr1:92134000-92134200	Enhancers	Primary T cells fromperipheralblood	blood
8	chr1:92134000-92138000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:92134200-92138600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:92134200-92145200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:92135600-92135800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:92135600-92139400	Weak transcription	NHDF-Ad	bronchial
13	chr1:92135800-92136000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:92136000-92148600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:92136200-92136800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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