Variant report

Variant	rs2612022
Chromosome Location	chr3:53676791-53676792
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:53674896..53676899-chr3:53679106..53681380,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1037827	0.93[EUR][1000 genomes]
rs1380606	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1401494	0.83[CEU][hapmap];0.92[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1599230	0.81[CEU][hapmap]
rs1599231	1.00[YRI][hapmap]
rs1841291	0.85[CEU][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2250736	0.85[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2633707	0.89[CEU][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2633731	0.92[CHB][hapmap]
rs2680654	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2680656	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3774472	1.00[YRI][hapmap]
rs3774481	0.93[CEU][hapmap];0.82[EUR][1000 genomes]
rs3774486	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3774491	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6445590	0.91[CEU][hapmap]
rs6445591	0.88[EUR][1000 genomes]
rs6786135	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6809164	0.84[CHB][hapmap]
rs754063	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7630805	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs898415	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs898416	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs930949	0.94[EUR][1000 genomes]
rs9846874	0.81[CEU][hapmap]
rs9850569	0.92[CEU][hapmap]
rs9883910	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1001128	chr3:53659570-53927842	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv3449699	chr3:53673112-53677010	Weak transcription Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53652800-53684000	Weak transcription	Right Atrium	heart
2	chr3:53666400-53681400	Weak transcription	Fetal Lung	lung
3	chr3:53667600-53680600	Weak transcription	Fetal Intestine Large	intestine
4	chr3:53674800-53678000	Strong transcription	Fetal Intestine Small	intestine
5	chr3:53675200-53677600	Weak transcription	Esophagus	oesophagus
6	chr3:53676000-53677200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr3:53676200-53678000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr3:53676400-53676800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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