Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172146147..172149328-chr2:172150378..172154371,3	K562	blood:

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10454741	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11674632	0.80[AMR][1000 genomes]
rs11677795	0.84[AMR][1000 genomes]
rs11687454	0.84[AMR][1000 genomes]
rs11691073	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11694321	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11902733	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12987566	0.90[EUR][1000 genomes]
rs12989392	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12989938	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13000846	0.84[AMR][1000 genomes]
rs13002817	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13002867	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13003130	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13023287	0.84[AMR][1000 genomes]
rs13023973	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13031794	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13398989	0.83[AMR][1000 genomes]
rs2111459	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2356707	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34096402	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs36140780	0.85[AMR][1000 genomes]
rs67077741	0.85[AMR][1000 genomes]
rs6722670	0.84[AMR][1000 genomes]
rs7592018	0.84[AMR][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	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12995219	METTL8	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172144000-172154200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:172144200-172171200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:172150200-172159000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr2:172150400-172154400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:172150400-172154400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:172150400-172166400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:172150800-172154200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:172151600-172166400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:172151600-172168400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

Quick Search: