Variant report

Variant	rs2187304
Chromosome Location	chr21:37896871-37896872
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:37896121..37897904-chr21:37913611..37915970,2	MCF-7	breast:
2	chr21:37896205..37897774-chr21:38337593..38339393,2	K562	blood:
3	chr21:37894158..37897213-chr21:37901211..37904346,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000159261	Chromatin interaction
ENSG00000224790	Chromatin interaction
ENSG00000159267	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11909578	0.92[EUR][1000 genomes]
rs13046506	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13049189	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13049736	0.92[EUR][1000 genomes]
rs1892908	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1892909	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2015187	0.85[EUR][1000 genomes]
rs2835382	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2835383	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2835388	0.84[EUR][1000 genomes]
rs2835389	0.87[EUR][1000 genomes]
rs386394	0.82[JPT][hapmap]
rs412510	0.82[JPT][hapmap]
rs420352	0.82[JPT][hapmap]
rs430159	0.82[JPT][hapmap]
rs431741	0.82[JPT][hapmap]
rs432137	0.82[JPT][hapmap]
rs438492	0.82[JPT][hapmap]
rs4817806	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4817807	0.90[EUR][1000 genomes]
rs4817808	0.90[EUR][1000 genomes]
rs6517361	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs70940557	0.84[EUR][1000 genomes]
rs8128229	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs876780	0.82[JPT][hapmap]
rs914148	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9305590	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9305591	0.92[EUR][1000 genomes]
rs9305592	0.92[EUR][1000 genomes]
rs9305594	0.91[EUR][1000 genomes]
rs9305595	0.92[EUR][1000 genomes]
rs9653721	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9980855	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9981041	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][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	nsv834090	chr21:37812545-38009542	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1064290	chr21:37878964-37983133	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37893400-37897200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr21:37893800-37897800	Enhancers	Fetal Muscle Leg	muscle
3	chr21:37894800-37898800	Weak transcription	Right Atrium	heart
4	chr21:37895800-37902600	Weak transcription	GM12878-XiMat	blood
5	chr21:37896600-37897200	Enhancers	Left Ventricle	heart
6	chr21:37896800-37897000	Enhancers	Pancreas	Pancrea
7	chr21:37896800-37897200	Enhancers	Right Ventricle	heart
8	chr21:37896800-37897400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
9	chr21:37896800-37897400	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr21:37896800-37897600	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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