Variant report

Variant	rs56124007
Chromosome Location	chr1:152163220-152163221
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:152161950..152165021-chr1:152419938..152422984,3	K562	blood:
2	chr1:152162395..152164443-chr1:152410728..152413718,2	MCF-7	breast:
3	chr1:152162006..152163447-chr1:152318869..152320295,9	MCF-7	breast:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11204983	1.00[EUR][1000 genomes]
rs12060296	1.00[EUR][1000 genomes]
rs12066296	1.00[EUR][1000 genomes]
rs12067755	1.00[EUR][1000 genomes]
rs16833734	1.00[EUR][1000 genomes]
rs16833865	1.00[EUR][1000 genomes]
rs16833870	1.00[EUR][1000 genomes]
rs16833876	1.00[EUR][1000 genomes]
rs1858481	1.00[EUR][1000 genomes]
rs28655434	1.00[EUR][1000 genomes]
rs3120654	1.00[EUR][1000 genomes]
rs3126087	1.00[EUR][1000 genomes]
rs3126093	1.00[EUR][1000 genomes]
rs3134871	1.00[EUR][1000 genomes]
rs41363352	1.00[EUR][1000 genomes]
rs56024264	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56106510	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56156422	1.00[EUR][1000 genomes]
rs56244386	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57272962	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57934636	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58132665	1.00[EUR][1000 genomes]
rs58788896	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58823849	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60525930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60709044	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6587639	1.00[EUR][1000 genomes]
rs74126309	1.00[AMR][1000 genomes]
rs74126341	1.00[EUR][1000 genomes]
rs74126343	1.00[EUR][1000 genomes]
rs74126763	1.00[AMR][1000 genomes]
rs74127703	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74127885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74127887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74127894	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74127895	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74127917	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74127918	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74129414	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74129429	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74129447	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74129458	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74129459	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74129463	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74129464	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74129466	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74129507	1.00[AMR][1000 genomes]
rs7548044	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv1012327	chr1:151835544-152200890	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
3	nsv535159	chr1:151835544-152200890	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
4	nsv547853	chr1:152008671-152236760	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv872442	chr1:152054120-152187641	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv1014095	chr1:152104486-152454591	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	nsv547854	chr1:152145661-152165878	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152161800-152164800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:152162000-152163400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
3	chr1:152162000-152163600	Weak transcription	Esophagus	oesophagus
4	chr1:152162000-152163800	Weak transcription	Lung	lung
5	chr1:152162000-152164200	Enhancers	Hela-S3	cervix
6	chr1:152162200-152180200	Weak transcription	Ovary	ovary
7	chr1:152162400-152163600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:152162400-152164400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:152162400-152164800	Enhancers	HMEC	breast
10	chr1:152162600-152163400	Enhancers	Osteobl	bone
11	chr1:152162600-152164400	Enhancers	Liver	Liver
12	chr1:152162800-152163800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:152162800-152163800	Enhancers	NHEK	skin
14	chr1:152162800-152164000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:152162800-152164000	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr1:152163000-152164200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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