Variant report

Variant	nsv870653
Chromosome Location	chr1:74718578-74793878
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:74725032..74727117-chr1:74729630..74732086,2	K562	blood:
2	chr1:74789903..74792042-chr1:74796412..74799113,2	MCF-7	breast:
3	chr1:74725032..74727117-chr1:74729630..74732086,2	K562	blood:
4	chr1:74725032..74727513-chr1:74728453..74731130,2	K562	blood:
5	chr1:74622416..74625063-chr1:74764779..74767346,2	K562	blood:
6	chr1:74725032..74727513-chr1:74728453..74731130,2	K562	blood:
7	chr1:74701198..74703916-chr1:74780316..74782785,2	K562	blood:

Extended variants
information (count: 2735 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:2735 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs474324	chr1:74718578-74718579	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548787639	chr1:74718581-74718582	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574392760	chr1:74718613-74718614	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113572864	chr1:74718627-74718628	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185714675	chr1:74718650-74718651	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148907175	chr1:74718656-74718657	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372715647	chr1:74718704-74718705	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566564175	chr1:74718709-74718710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs496720	chr1:74718713-74718714	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs564212836	chr1:74718717-74718718	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548581811	chr1:74718764-74718765	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12132757	chr1:74718801-74718802	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs549866505	chr1:74718806-74718807	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189016104	chr1:74718837-74718838	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181066393	chr1:74718841-74718842	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs115754902	chr1:74718846-74718847	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115658862	chr1:74718856-74718857	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185598467	chr1:74718858-74718859	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12747994	chr1:74718861-74718862	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs116391207	chr1:74718869-74718870	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537933162	chr1:74718895-74718896	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11590342	chr1:74718971-74718972	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs568024035	chr1:74718982-74718983	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs56394308	chr1:74718991-74718992	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs553998468	chr1:74719006-74719007	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34364336	chr1:74719084-74719085	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12075610	chr1:74719124-74719125	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs545545702	chr1:74719129-74719130	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557539218	chr1:74719142-74719143	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564144	chr1:74719144-74719145	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs543877216	chr1:74719169-74719170	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375276872	chr1:74719173-74719174	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562075585	chr1:74719205-74719206	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375692426	chr1:74719220-74719221	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189616595	chr1:74719241-74719242	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541090980	chr1:74719252-74719253	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112732669	chr1:74719253-74719254	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560042810	chr1:74719281-74719282	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533679166	chr1:74719289-74719290	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs502187	chr1:74719290-74719291	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs183030706	chr1:74719309-74719310	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113633305	chr1:74719312-74719313	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549830153	chr1:74719313-74719314	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568076886	chr1:74719324-74719325	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115171240	chr1:74719372-74719373	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544556947	chr1:74719380-74719381	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376372135	chr1:74719384-74719385	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375430246	chr1:74719394-74719395	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141926642	chr1:74719404-74719405	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557677623	chr1:74719413-74719414	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:74671400-74719400	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr1:74671400-74751800	Weak transcription	Ovary	ovary
3	chr1:74675800-74724000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr1:74714200-74720400	Weak transcription	Adipose Nuclei	Adipose
5	chr1:74715000-74719000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:74715200-74726400	Weak transcription	Colon Smooth Muscle	Colon
7	chr1:74715400-74719000	Weak transcription	Brain Angular Gyrus	brain
8	chr1:74717000-74751800	Weak transcription	Aorta	Aorta
9	chr1:74717400-74719400	Strong transcription	Right Ventricle	heart
10	chr1:74717600-74718600	Strong transcription	Fetal Heart	heart
11	chr1:74718400-74719600	Strong transcription	Left Ventricle	heart
12	chr1:74718600-74727400	Weak transcription	Fetal Heart	heart
13	chr1:74719000-74719600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
14	chr1:74719000-74719600	ZNF genes & repeats	Pancreas	Pancrea
15	chr1:74719400-74719600	Genic enhancers	Right Ventricle	heart
16	chr1:74719600-74723600	Weak transcription	Left Ventricle	heart
17	chr1:74719600-74753800	Weak transcription	Right Ventricle	heart
18	chr1:74720200-74720600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:74723600-74724200	Strong transcription	Left Ventricle	heart
20	chr1:74723800-74731800	Weak transcription	Gastric	stomach
21	chr1:74724200-74746400	Weak transcription	Left Ventricle	heart
22	chr1:74727400-74728000	Enhancers	Fetal Heart	heart
23	chr1:74728000-74730800	Weak transcription	Fetal Heart	heart
24	chr1:74730800-74731800	Genic enhancers	Fetal Heart	heart
25	chr1:74730800-74733200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:74731400-74731800	Enhancers	Brain Hippocampus Middle	brain
27	chr1:74731400-74732200	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr1:74731600-74732200	Enhancers	Brain Angular Gyrus	brain
29	chr1:74731800-74732000	Enhancers	Gastric	stomach
30	chr1:74731800-74732800	Enhancers	Brain Anterior Caudate	brain
31	chr1:74731800-74735200	Enhancers	Fetal Heart	heart
32	chr1:74731800-74743800	Weak transcription	Brain Hippocampus Middle	brain
33	chr1:74733200-74735400	Enhancers	Fetal Intestine Large	intestine
34	chr1:74734000-74734400	Enhancers	Fetal Intestine Small	intestine
35	chr1:74734000-74734600	Enhancers	Fetal Stomach	stomach
36	chr1:74735200-74742200	Weak transcription	Fetal Heart	heart
37	chr1:74735800-74751400	Weak transcription	Psoas Muscle	Psoas
38	chr1:74736600-74740400	Weak transcription	Brain Substantia Nigra	brain
39	chr1:74736800-74751600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr1:74742200-74743200	Enhancers	Fetal Heart	heart
41	chr1:74743200-74746400	Weak transcription	Fetal Heart	heart
42	chr1:74746400-74746800	Genic enhancers	Left Ventricle	heart
43	chr1:74746400-74747400	Enhancers	Fetal Heart	heart
44	chr1:74746800-74748400	Strong transcription	Left Ventricle	heart
45	chr1:74747400-74747800	Weak transcription	Fetal Heart	heart
46	chr1:74747600-74752000	Weak transcription	Gastric	stomach
47	chr1:74747800-74748000	Enhancers	Fetal Heart	heart
48	chr1:74748000-74769200	Weak transcription	Fetal Heart	heart
49	chr1:74748400-74751800	Weak transcription	Left Ventricle	heart
50	chr1:74750800-74751200	Enhancers	H9 Cell Line	embryonic stem cell

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