Variant report

Variant	rs2248600
Chromosome Location	chr2:113898879-113898880
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	chr2:113895417..113899830-chr2:113913287..113915798,5	MCF-7	breast:
2	chr2:113893764..113901636-chr2:113913546..113916556,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000125637	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1586815	1.00[EUR][1000 genomes]
rs1794067	0.84[YRI][hapmap]
rs2172189	1.00[EUR][1000 genomes]
rs2248588	1.00[EUR][1000 genomes]
rs2248596	1.00[EUR][1000 genomes]
rs2248604	0.94[YRI][hapmap];0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2254511	0.88[YRI][hapmap]
rs2853628	0.82[YRI][hapmap]
rs28928281	1.00[EUR][1000 genomes]
rs28928283	1.00[EUR][1000 genomes]
rs28928291	1.00[EUR][1000 genomes]
rs28928299	1.00[EUR][1000 genomes]
rs28928300	1.00[EUR][1000 genomes]
rs28928301	1.00[EUR][1000 genomes]
rs28928302	1.00[EUR][1000 genomes]
rs28928304	1.00[EUR][1000 genomes]
rs28928305	1.00[EUR][1000 genomes]
rs28928306	1.00[EUR][1000 genomes]
rs28929168	1.00[EUR][1000 genomes]
rs3099479	1.00[EUR][1000 genomes]
rs315935	0.83[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs315936	0.84[YRI][hapmap]
rs315937	1.00[EUR][1000 genomes]
rs315938	0.94[YRI][hapmap];0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs315939	0.94[YRI][hapmap];0.85[AFR][1000 genomes]
rs315940	0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs315941	0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs315944	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs315950	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs315955	1.00[EUR][1000 genomes]
rs4848315	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6735388	1.00[EUR][1000 genomes]
rs6761821	1.00[EUR][1000 genomes]
rs7573950	1.00[EUR][1000 genomes]
rs923692	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv582711	chr2:113895516-113984503	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113895000-113902400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:113897000-113906200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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