Variant report

Variant	rs7953974
Chromosome Location	chr12:83343766-83343767
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:83342058..83344006-chr12:83365931..83367769,2	MCF-7	breast:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10746262	1.00[EUR][1000 genomes]
rs10778918	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs10778921	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1434425	0.94[AMR][1000 genomes]
rs1655611	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1655612	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1682567	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1682575	0.88[CEU][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1682579	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1682580	0.89[CEU][hapmap];0.96[EUR][1000 genomes]
rs1682606	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1682607	0.87[EUR][1000 genomes]
rs1682608	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1796150	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs1796156	0.89[CEU][hapmap]
rs1796157	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1796161	1.00[EUR][1000 genomes]
rs1796162	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1796166	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs1796167	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1796168	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1796178	0.88[CEU][hapmap];0.92[EUR][1000 genomes]
rs1796187	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1796296	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1796300	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1821444	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1972801	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2019434	0.89[AMR][1000 genomes]
rs2046417	0.89[CEU][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2062357	1.00[EUR][1000 genomes]
rs2403025	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2403026	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2707753	1.00[EUR][1000 genomes]
rs2707754	1.00[EUR][1000 genomes]
rs2707760	0.88[CEU][hapmap];0.90[EUR][1000 genomes]
rs2708000	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2708001	0.89[CEU][hapmap]
rs4882531	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6539697	0.88[EUR][1000 genomes]
rs7297707	0.88[CEU][hapmap];0.90[EUR][1000 genomes]
rs7299175	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7303058	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521849	chr12:83013783-83991479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv469490	chr12:83089431-83507269	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv559542	chr12:83089431-83507269	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	esv2758315	chr12:83101045-83357621	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv2759911	chr12:83101045-83357621	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv832472	chr12:83248283-83419753	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
7	nsv559557	chr12:83334204-83453620	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
8	nsv469495	chr12:83339933-83374779	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
9	nsv559558	chr12:83339933-83374779	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83325000-83346400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:83325600-83348000	Weak transcription	Colon Smooth Muscle	Colon
3	chr12:83331400-83348000	Weak transcription	Brain Hippocampus Middle	brain
4	chr12:83340400-83348200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:83340800-83348400	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr12:83342000-83352600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:83343600-83343800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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