Variant report

Variant	esv3441556
Chromosome Location	chr1:69942789-69945337
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:69935852..69938331-chr1:69943499..69946682,3	K562	blood:
2	chr1:69935852..69938420-chr1:69942565..69946682,4	K562	blood:
3	chr1:69923912..69926155-chr1:69945256..69947864,2	K562	blood:

Extended variants
information (count: 95 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374459956	chr1:69942811-69942812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs542781058	chr1:69942819-69942820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537050935	chr1:69942820-69942821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556911259	chr1:69942824-69942825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192106196	chr1:69942841-69942842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545011549	chr1:69942926-69942927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs118185928	chr1:69942950-69942951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562313846	chr1:69942993-69942994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1120087	chr1:69943001-69943002	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs36089229	chr1:69943002-69943003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541184392	chr1:69943006-69943007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11584934	chr1:69943053-69943054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560965181	chr1:69943065-69943066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148950317	chr1:69943086-69943087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549816792	chr1:69943121-69943122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537698019	chr1:69943171-69943172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563306959	chr1:69943192-69943193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532109600	chr1:69943238-69943239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142930126	chr1:69943248-69943249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146598059	chr1:69943288-69943289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528688449	chr1:69943313-69943314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548329321	chr1:69943315-69943316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141433071	chr1:69943375-69943376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113485924	chr1:69943381-69943382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189938777	chr1:69943391-69943392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570786633	chr1:69943418-69943419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145141754	chr1:69943429-69943430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558582395	chr1:69943458-69943459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572256881	chr1:69943464-69943465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562058097	chr1:69943488-69943489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541247372	chr1:69943505-69943506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554768164	chr1:69943544-69943545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113773642	chr1:69943593-69943594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112436705	chr1:69943594-69943595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs397980447	chr1:69943600-69943601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574668995	chr1:69943620-69943621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139011951	chr1:69943705-69943706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529840542	chr1:69943724-69943725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547517579	chr1:69943725-69943726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559597747	chr1:69943726-69943727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111313133	chr1:69943727-69943728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374531025	chr1:69943728-69943729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374450092	chr1:69943809-69943810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140749954	chr1:69943877-69943878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs193285311	chr1:69943927-69943928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559799998	chr1:69943934-69943935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185462821	chr1:69943945-69943946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528733469	chr1:69944010-69944011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548392753	chr1:69944019-69944020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568353061	chr1:69944020-69944021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
small cell lung cancer	20016488	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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal cancer	21851588	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:69942600-69942800	Enhancers	NHEK	skin
2	chr1:69942600-69943000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:69943000-69945400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:69944800-69946000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:69945200-69945800	Enhancers	K562	blood

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