Variant report

No.	Distal block	Cell Line	Cell type
1	chr8:125286833..125289360-chr8:125290598..125293063,2	K562	blood:
2	chr8:125283501..125286764-chr8:125288205..125290687,4	MCF-7	breast:
3	chr8:125283962..125286170-chr8:125287924..125291020,4	MCF-7	breast:
4	chr8:125288641..125294349-chr8:125295098..125300366,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253227	Chromatin interaction

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

rs_ID	r²[population]
rs10087001	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10089870	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10099103	0.90[EUR][1000 genomes]
rs10956170	0.85[CHB][hapmap]
rs13439443	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17360690	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17360711	0.81[CEU][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17361004	0.81[CEU][hapmap];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28371029	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55932688	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56218959	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56234976	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6983392	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6988141	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7003238	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73330303	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73330304	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73345110	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73345113	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73345158	0.82[AMR][1000 genomes]
rs73345172	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73345176	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73345185	0.81[AMR][1000 genomes];0.89[EUR][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	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4871483	RP11-383J24.1	cis	Muscle Skeletal	GTEx

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125284600-125290200	Weak transcription	Psoas Muscle	Psoas
2	chr8:125286200-125290200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr8:125287400-125292800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:125288000-125294200	Weak transcription	A549	lung
5	chr8:125288200-125289200	Weak transcription	Fetal Muscle Leg	muscle
6	chr8:125289000-125289200	Enhancers	Fetal Brain Male	brain

Quick Search: