Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121787380..121794219-chr12:121795990..121805610,16	K562	blood:
2	chr12:121800394..121802151-chr12:122145689..122147997,2	K562	blood:

Variant related genes	Relation type
ENSG00000089053	Chromatin interaction

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

rs_ID	r²[population]
rs11065536	0.93[ASN][1000 genomes]
rs1169961	0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.96[ASN][1000 genomes]
rs1169962	0.93[ASN][1000 genomes]
rs1169963	0.83[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.93[ASN][1000 genomes]
rs1622534	0.97[ASN][1000 genomes]
rs1624953	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1647256	0.91[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs1706463	0.83[ASN][1000 genomes]
rs1799525	0.91[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs1799526	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2668259	0.96[ASN][1000 genomes]
rs2668260	0.96[ASN][1000 genomes]
rs2668262	0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs2695142	0.85[ASN][1000 genomes]
rs2695143	0.81[ASN][1000 genomes]
rs2695148	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2695149	0.93[ASN][1000 genomes]
rs2942074	0.88[ASN][1000 genomes]
rs2950417	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7397643	0.93[ASN][1000 genomes]
rs7398701	0.97[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1647253	ANAPC5	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121798600-121802400	Weak transcription	HMEC	breast
2	chr12:121798800-121802400	Weak transcription	NHEK	skin
3	chr12:121799200-121802400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:121799200-121802400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

Quick Search: