Variant report

Variant	nsv947275
Chromosome Location	chr1:74804320-74819013
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	chr1:74641537..74643099-chr1:74809509..74811733,2	K562	blood:
2	chr1:74799781..74801961-chr1:74805527..74808251,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRC53-1	chr1:74807263-74807671	ENSG00000237324.2
2	lnc-FPGT-7	chr1:74815702-74815781	ucscGeneNc_uc001dgh_2

Variant related genes	Relation type
ENSG00000116783	chromatin interactions

Extended variants
information (count: 594 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:594 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557995351	chr1:74804338-74804339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576277050	chr1:74804358-74804359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543577745	chr1:74804367-74804368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1868562	chr1:74804377-74804378	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs573535350	chr1:74804381-74804382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541118414	chr1:74804396-74804397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12068902	chr1:74804411-74804412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148705215	chr1:74804413-74804414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533109598	chr1:74804471-74804472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186977496	chr1:74804476-74804477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191013287	chr1:74804513-74804514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12058448	chr1:74804532-74804533	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs531131177	chr1:74804573-74804574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141420430	chr1:74804584-74804585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567843417	chr1:74804623-74804624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs74096705	chr1:74804632-74804633	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs183320189	chr1:74804650-74804651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146384052	chr1:74804701-74804702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184960515	chr1:74804731-74804732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189813353	chr1:74804778-74804779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557492814	chr1:74804791-74804792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs3765663	chr1:74804833-74804834	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs139771052	chr1:74804841-74804842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs3765664	chr1:74804866-74804867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573498398	chr1:74804888-74804889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs144379100	chr1:74804912-74804913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs11809715	chr1:74804920-74804921	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs552446042	chr1:74804931-74804932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577731320	chr1:74804933-74804934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs6694833	chr1:74804941-74804942	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs116560940	chr1:74804948-74804949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs139088050	chr1:74804964-74804965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs116106553	chr1:74804979-74804980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149916801	chr1:74804990-74804991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183174970	chr1:74805004-74805005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187951955	chr1:74805069-74805070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368100365	chr1:74805075-74805076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs547222138	chr1:74805103-74805104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565754819	chr1:74805126-74805127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144948210	chr1:74805146-74805147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551490921	chr1:74805183-74805184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569542209	chr1:74805207-74805208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs537098551	chr1:74805274-74805275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs149021787	chr1:74805298-74805299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs116322400	chr1:74805366-74805367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534476182	chr1:74805374-74805375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547145897	chr1:74805455-74805456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555081884	chr1:74805491-74805492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs376171489	chr1:74805499-74805500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552771014	chr1:74805531-74805532	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	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:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:74785600-74808800	Weak transcription	Left Ventricle	heart
2	chr1:74790400-74814200	Weak transcription	Aorta	Aorta
3	chr1:74791200-74807400	Weak transcription	Fetal Heart	heart
4	chr1:74797000-74809000	Weak transcription	Ovary	ovary
5	chr1:74801200-74808800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr1:74804200-74805200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:74804200-74809400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:74804200-74809600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:74804400-74805200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr1:74804400-74805200	Enhancers	HSMM	muscle
11	chr1:74804600-74804800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:74804600-74804800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:74804800-74805800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:74804800-74808800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:74805200-74806200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:74805600-74807400	Weak transcription	Brain Angular Gyrus	brain
17	chr1:74805800-74807800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:74806200-74806400	Enhancers	Brain Germinal Matrix	brain
19	chr1:74806200-74806400	Enhancers	Right Ventricle	heart
20	chr1:74806200-74806800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:74806200-74807400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:74806400-74806600	Enhancers	Brain Anterior Caudate	brain
23	chr1:74806400-74806600	Enhancers	Fetal Brain Female	brain
24	chr1:74806400-74807400	Weak transcription	Brain Germinal Matrix	brain
25	chr1:74806400-74807400	Weak transcription	Right Ventricle	heart
26	chr1:74806400-74807600	Enhancers	Brain Substantia Nigra	brain
27	chr1:74806400-74808000	Enhancers	Brain Cingulate Gyrus	brain
28	chr1:74806400-74809200	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr1:74806600-74806800	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr1:74806600-74807400	Weak transcription	Brain Anterior Caudate	brain
31	chr1:74806600-74807600	Weak transcription	Fetal Brain Female	brain
32	chr1:74807400-74807600	Enhancers	Brain Angular Gyrus	brain
33	chr1:74807400-74807600	Enhancers	Brain Anterior Caudate	brain
34	chr1:74807400-74807600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr1:74807400-74807600	ZNF genes & repeats	Pancreas	Pancrea
36	chr1:74807400-74808000	Enhancers	Brain Hippocampus Middle	brain
37	chr1:74807400-74808200	Enhancers	Fetal Muscle Leg	muscle
38	chr1:74807400-74808400	Enhancers	Fetal Heart	heart
39	chr1:74807400-74809400	Enhancers	Right Ventricle	heart
40	chr1:74807400-74809600	Enhancers	Brain Germinal Matrix	brain
41	chr1:74807400-74810000	Weak transcription	Gastric	stomach
42	chr1:74807600-74808000	Enhancers	Fetal Brain Female	brain
43	chr1:74807600-74808600	Weak transcription	Brain Anterior Caudate	brain
44	chr1:74807600-74808600	Weak transcription	Brain Substantia Nigra	brain
45	chr1:74807600-74808800	Weak transcription	Brain Angular Gyrus	brain
46	chr1:74807600-74808800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr1:74807600-74809200	Weak transcription	Pancreas	Pancrea
48	chr1:74808000-74808400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr1:74808000-74808400	Weak transcription	Brain Hippocampus Middle	brain
50	chr1:74808000-74809200	Weak transcription	Fetal Brain Female	brain

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