Variant report

Variant	esv5120
Chromosome Location	chr1:59059555-59060120
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:59049910..59054215-chr1:59054903..59060265,8	MCF-7	breast:
2	chr1:59041908..59044362-chr1:59059779..59062125,2	MCF-7	breast:
3	chr1:59059553..59061890-chr1:59075340..59077312,2	MCF-7	breast:
4	chr1:59041326..59044486-chr1:59056548..59059729,7	MCF-7	breast:
5	chr1:59058111..59061332-chr1:59083852..59086894,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184292	chromatin interactions

Extended variants
information (count: 27 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181676419	chr1:59059593-59059594	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs571266875	chr1:59059609-59059610	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs144071110	chr1:59059629-59059630	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs553557018	chr1:59059632-59059633	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs201831833	chr1:59059635-59059636	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs200605620	chr1:59059636-59059637	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs180034	chr1:59059656-59059657	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs111752748	chr1:59059736-59059737	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs367618748	chr1:59059745-59059746	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372240603	chr1:59059770-59059771	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191163904	chr1:59059794-59059795	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs375299400	chr1:59059846-59059847	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs232817	chr1:59059874-59059875	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs145820365	chr1:59059893-59059894	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs141706395	chr1:59059920-59059921	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs113524694	chr1:59059926-59059927	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs564139302	chr1:59059928-59059929	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs6662303	chr1:59059937-59059938	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs543337372	chr1:59059939-59059940	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs563628996	chr1:59059941-59059942	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs529051141	chr1:59059942-59059943	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs12749125	chr1:59060053-59060054	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs12074677	chr1:59060072-59060073	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs559442331	chr1:59060077-59060078	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs12565004	chr1:59060089-59060090	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs370193497	chr1:59060101-59060102	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs186129469	chr1:59060105-59060106	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
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
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
Meckel-Gruber syndrome	21572526	CNVD
Breast cancer	16620391	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Emphysema	19352772	CNVD
Breast cancer	17133270	CNVD
Cancer	20164919	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59051200-59063400	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr1:59055000-59060000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:59057000-59059600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:59057200-59059600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:59057800-59059600	Enhancers	NHLF	lung
6	chr1:59058000-59062200	Weak transcription	Esophagus	oesophagus
7	chr1:59058400-59059600	Enhancers	HSMMtube	muscle
8	chr1:59058600-59060000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr1:59058600-59062800	Weak transcription	Right Ventricle	heart
10	chr1:59058800-59060000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:59058800-59060000	Weak transcription	Fetal Muscle Leg	muscle
12	chr1:59058800-59060000	Weak transcription	Spleen	Spleen
13	chr1:59058800-59062000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:59058800-59062200	Weak transcription	Adipose Nuclei	Adipose
15	chr1:59058800-59062200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr1:59058800-59062400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:59058800-59062400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr1:59058800-59062600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr1:59058800-59062600	Weak transcription	Right Atrium	heart
20	chr1:59058800-59062800	Weak transcription	Aorta	Aorta
21	chr1:59058800-59063200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr1:59059000-59059600	Genic enhancers	HUVEC	blood vessel
23	chr1:59059000-59059600	Genic enhancers	NHEK	skin
24	chr1:59059000-59062800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:59059200-59060000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:59059200-59062000	Weak transcription	HSMM	muscle
27	chr1:59059200-59062400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:59059200-59062600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr1:59059200-59062600	Weak transcription	Osteobl	bone
30	chr1:59059200-59062800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:59059400-59060000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:59059400-59060600	Weak transcription	NHDF-Ad	bronchial
33	chr1:59059400-59060800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:59059400-59062400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr1:59059400-59062400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr1:59059400-59062400	Weak transcription	Ovary	ovary
37	chr1:59059400-59062400	Weak transcription	HMEC	breast
38	chr1:59059600-59059800	Weak transcription	HUVEC	blood vessel
39	chr1:59059600-59061000	Strong transcription	NHEK	skin
40	chr1:59059600-59062200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:59059600-59062200	Weak transcription	HSMMtube	muscle
42	chr1:59059600-59066600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:59059800-59060600	Strong transcription	HUVEC	blood vessel
44	chr1:59060000-59060200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:59060000-59060200	Enhancers	Spleen	Spleen
46	chr1:59060000-59060400	Enhancers	Fetal Muscle Trunk	muscle
47	chr1:59060000-59060600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr1:59060000-59060800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr1:59060000-59060800	Enhancers	Fetal Muscle Leg	muscle
50	chr1:59060000-59061200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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