Variant report

Variant	rs72740276
Chromosome Location	chr1:193263529-193263530
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:193263342..193265639-chr1:193268486..193270329,2	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10494675	0.81[EUR][1000 genomes]
rs10801186	0.81[EUR][1000 genomes]
rs10921331	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12116651	1.00[AFR][1000 genomes]
rs12119992	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12122868	0.86[EUR][1000 genomes]
rs12123069	0.86[EUR][1000 genomes]
rs12123793	0.81[EUR][1000 genomes]
rs12124921	0.86[EUR][1000 genomes]
rs12124924	0.86[EUR][1000 genomes]
rs12129126	0.86[EUR][1000 genomes]
rs12133955	1.00[AFR][1000 genomes]
rs12135148	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12137353	1.00[AFR][1000 genomes]
rs12137391	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12141336	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12141455	1.00[AFR][1000 genomes]
rs12141559	0.81[EUR][1000 genomes]
rs12143361	0.81[EUR][1000 genomes]
rs12145609	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12145761	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1325196	0.81[EUR][1000 genomes]
rs17528639	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs17592633	0.81[EUR][1000 genomes]
rs17593120	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17593414	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17601491	1.00[AFR][1000 genomes]
rs28930673	0.81[EUR][1000 genomes]
rs28930674	0.81[EUR][1000 genomes]
rs528790	0.97[EUR][1000 genomes]
rs6663374	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6682904	0.86[EUR][1000 genomes]
rs6685991	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72740227	0.86[EUR][1000 genomes]
rs72740228	0.86[EUR][1000 genomes]
rs72740230	0.86[EUR][1000 genomes]
rs72740243	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72740246	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72740259	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72740261	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72740270	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7525157	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs817137	0.97[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832148	chr1:193143945-193292897	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv872831	chr1:193152317-193322087	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1001174	chr1:193186758-193363372	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193243800-193267800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:193255200-193280400	Weak transcription	HSMM	muscle
3	chr1:193262800-193264000	Enhancers	Fetal Brain Male	brain

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