Variant report

Variant	rs2243778
Chromosome Location	chr21:16450918-16450919
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:6492494..6494047-chr21:16450841..16452572,2	MCF-7	breast:
2	chr21:16435121..16437420-chr21:16448543..16451379,3	K562	blood:
3	chr21:16438761..16440286-chr21:16449257..16451061,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180530	Chromatin interaction
ENSG00000236471	Chromatin interaction
ENSG00000111321	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1297219	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1997576	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2142220	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2142221	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2205238	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2205239	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2252756	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2253879	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2254152	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2254269	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2254729	0.85[ASW][hapmap];0.92[CEU][hapmap];0.90[MKK][hapmap];0.89[TSI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2254956	0.84[ASW][hapmap];0.96[CEU][hapmap];0.95[GIH][hapmap];0.97[MKK][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2255190	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2403876	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2776045	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2823032	0.96[CEU][hapmap];0.89[GIH][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8130770	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8132765	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8134191	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs972136	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834048	chr21:16324481-16489570	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv587050	chr21:16413682-16462268	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1059303	chr21:16423727-16466112	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv544379	chr21:16423727-16466112	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv523396	chr21:16447754-16453356	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2243778	ABCC8	trans	parietal	SCAN

Chromatin state (count:0 , 50 per page) page:

No data

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