Variant report

Variant	rs17023990
Chromosome Location	chr2:100951210-100951211
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:100948850..100951479-chr2:100963772..100965519,2	K562	blood:
2	chr2:100944919..100947435-chr2:100949104..100951450,2	K562	blood:
3	chr2:100944345..100946416-chr2:100951024..100953331,2	MCF-7	breast:
4	chr2:100940179..100941697-chr2:100950006..100952146,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs17023897	0.89[EUR][1000 genomes]
rs17024021	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17024048	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17024150	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17024185	1.00[GIH][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17024216	1.00[GIH][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17353694	0.89[EUR][1000 genomes]
rs28827632	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3948255	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57669367	0.89[EUR][1000 genomes]
rs57710676	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58242629	0.89[EUR][1000 genomes]
rs58420862	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58658810	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59727890	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60078624	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61057466	0.89[EUR][1000 genomes]
rs61070099	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6732784	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6743347	0.89[EUR][1000 genomes]
rs7582424	1.00[CEU][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv834311	chr2:100816917-100990036	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv582531	chr2:100908508-101207639	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	esv2753837	chr2:100928086-100955814	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100951000-100951400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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