Variant report

Variant	rs694218
Chromosome Location	chr5:41514225-41514226
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	chr5:41511986..41516214-chr5:41517012..41519107,3	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10805660	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12187650	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1457133	0.96[CEU][hapmap];0.89[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap];0.80[TSI][hapmap];0.90[YRI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17207595	0.91[CHB][hapmap]
rs2644043	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2644044	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2859816	0.89[CHB][hapmap]
rs318017	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs318019	0.82[AMR][1000 genomes]
rs318020	0.81[AMR][1000 genomes]
rs318021	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.91[MEX][hapmap];0.89[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs318041	0.91[JPT][hapmap];0.86[MEX][hapmap];0.90[YRI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3913727	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4106195	0.94[ASN][1000 genomes]
rs4588635	0.95[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.94[ASN][1000 genomes]
rs4957156	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4957158	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs508669	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs523442	0.96[CEU][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap];0.80[TSI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55803511	0.82[AMR][1000 genomes]
rs581905	0.87[JPT][hapmap];0.90[YRI][hapmap]
rs611647	0.82[JPT][hapmap];0.90[YRI][hapmap]
rs627744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv969281	chr5:41509672-41514269	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41511800-41521800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:41511800-41521800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:41513200-41519800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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