Variant report

Variant	rs412775
Chromosome Location	chr21:37939801-37939802
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	chr21:37938656..37940715-chr21:37944233..37946563,2	K562	blood:
2	chr21:37938942..37941935-chr21:37946402..37949094,2	K562	blood:

Variant related genes	Relation type
ENSG00000159261	Chromatin interaction

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs1023150	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1023368	0.84[EUR][1000 genomes]
rs11088353	0.83[EUR][1000 genomes]
rs11088354	0.83[EUR][1000 genomes]
rs11088359	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2000547	0.80[EUR][1000 genomes]
rs2835396	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs364698	0.98[ASN][1000 genomes]
rs364846	0.98[ASN][1000 genomes]
rs364916	0.97[ASN][1000 genomes]
rs365416	0.98[ASN][1000 genomes]
rs366381	0.98[ASN][1000 genomes]
rs367166	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs371189	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs371945	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs372213	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs375572	0.98[ASN][1000 genomes]
rs375662	0.98[ASN][1000 genomes]
rs376218	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs376590	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs377160	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs377284	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs377527	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs377574	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs382635	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs382937	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs383609	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs387842	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs390432	0.97[ASN][1000 genomes]
rs393851	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs394087	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs394110	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs394211	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs394565	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs395383	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs397691	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs397990	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs397996	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs398591	0.90[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs399522	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs399711	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs400019	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs400267	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs400544	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs404515	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs405901	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs407095	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs409231	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs413616	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs413852	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs414911	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs415100	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs415124	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs415848	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs416108	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs416875	0.97[ASN][1000 genomes]
rs417173	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs417191	0.97[ASN][1000 genomes]
rs419941	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs420925	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs425864	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs428948	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs429326	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs431530	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.80[MKK][hapmap];0.88[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs439888	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs440551	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs441734	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs443968	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs445103	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs447759	0.97[ASN][1000 genomes]
rs448014	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs448332	0.90[CEU][hapmap];0.95[CHB][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs448482	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs448659	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs448687	0.90[CEU][hapmap];0.95[CHB][hapmap];0.82[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs448849	1.00[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs449547	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs450183	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs451163	0.98[ASN][1000 genomes]
rs451243	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs451370	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs451614	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs452072	0.95[ASN][1000 genomes]
rs452081	0.97[ASN][1000 genomes]
rs452107	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs452128	0.97[ASN][1000 genomes]
rs452583	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs453539	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7510508	0.84[JPT][hapmap]
rs928839	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9753924	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs97959	0.97[ASN][1000 genomes]
rs9976609	0.89[JPT][hapmap]
rs9978422	0.89[EUR][1000 genomes];0.93[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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37938200-37940400	Enhancers	Fetal Kidney	kidney
2	chr21:37939000-37940000	Enhancers	Fetal Lung	lung
3	chr21:37939200-37940000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr21:37939200-37940000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr21:37939200-37940800	Enhancers	Fetal Muscle Leg	muscle

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