Variant report

Variant	rs2680656
Chromosome Location	chr3:53679579-53679580
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	chr3:53674896..53676899-chr3:53679106..53681380,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1037827	0.93[EUR][1000 genomes]
rs11711045	0.89[CHB][hapmap]
rs11720002	0.89[CHB][hapmap]
rs1380606	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1401494	0.85[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1460118	0.94[CHB][hapmap]
rs1599231	1.00[YRI][hapmap]
rs1841291	0.87[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2077167	0.84[JPT][hapmap]
rs2250736	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2612022	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2633707	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2680654	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	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs3774486	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3774491	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6445590	0.90[CEU][hapmap]
rs6445591	0.87[EUR][1000 genomes]
rs6786135	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs754063	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7630805	1.00[CEU][hapmap]
rs898415	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs898416	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs930949	0.92[EUR][1000 genomes]
rs9850569	0.92[CEU][hapmap]
rs9883910	0.92[AMR][1000 genomes];0.95[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	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

No data

Chromatin state (count:10 , 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	chr3:53676800-53688600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:53677600-53700000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr3:53678000-53681400	Weak transcription	Fetal Intestine Small	intestine
7	chr3:53678000-53687000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr3:53679200-53684400	Weak transcription	Fetal Brain Female	brain
9	chr3:53679400-53679600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:53679400-53680800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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