Variant report

Variant	esv3370461
Chromosome Location	chr1:74727864-74731262
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	chr1:74725032..74727117-chr1:74729630..74732086,2	K562	blood:
2	chr1:74725032..74727513-chr1:74728453..74731130,2	K562	blood:

Extended variants
information (count: 113 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12750181	chr1:74727864-74727865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571538245	chr1:74727868-74727869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs370228218	chr1:74727873-74727874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140385605	chr1:74727894-74727895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12080871	chr1:74727913-74727914	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs12118620	chr1:74727955-74727956	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs549674231	chr1:74728126-74728127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542814428	chr1:74728188-74728189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561509778	chr1:74728225-74728226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs45482796	chr1:74728235-74728236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12734212	chr1:74728256-74728257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554733897	chr1:74728263-74728264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs80307559	chr1:74728299-74728300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540708842	chr1:74728304-74728305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559037987	chr1:74728310-74728311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2167077	chr1:74728470-74728471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532763384	chr1:74728509-74728510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544989773	chr1:74728618-74728619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189692233	chr1:74728631-74728632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543675	chr1:74728652-74728653	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs147352216	chr1:74728656-74728657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182335443	chr1:74728666-74728667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528331418	chr1:74728672-74728673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547085056	chr1:74728697-74728698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547919187	chr1:74728704-74728705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571737848	chr1:74728718-74728719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538609429	chr1:74728738-74728739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186688207	chr1:74728968-74728969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569197891	chr1:74728974-74728975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148414391	chr1:74729005-74729006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554876805	chr1:74729008-74729009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573066294	chr1:74729021-74729022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192305284	chr1:74729044-74729045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564576215	chr1:74729057-74729058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369629646	chr1:74729066-74729067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184773320	chr1:74729095-74729096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188528044	chr1:74729101-74729102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76793654	chr1:74729103-74729104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs45459704	chr1:74729107-74729108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542929381	chr1:74729152-74729153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs45578538	chr1:74729174-74729175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192973746	chr1:74729189-74729190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570148362	chr1:74729202-74729203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546823361	chr1:74729303-74729304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184805030	chr1:74729326-74729327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532630017	chr1:74729372-74729373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550842878	chr1:74729416-74729417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569213292	chr1:74729517-74729518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533425710	chr1:74729525-74729526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536260929	chr1:74729599-74729600	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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	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
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:74671400-74751800	Weak transcription	Ovary	ovary
2	chr1:74717000-74751800	Weak transcription	Aorta	Aorta
3	chr1:74719600-74753800	Weak transcription	Right Ventricle	heart
4	chr1:74723800-74731800	Weak transcription	Gastric	stomach
5	chr1:74724200-74746400	Weak transcription	Left Ventricle	heart
6	chr1:74727400-74728000	Enhancers	Fetal Heart	heart
7	chr1:74728000-74730800	Weak transcription	Fetal Heart	heart
8	chr1:74730800-74731800	Genic enhancers	Fetal Heart	heart
9	chr1:74730800-74733200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links