Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:170063764..170066011-chr1:170067064..170069501,2	K562	blood:
2	chr1:170064234..170066011-chr1:170067576..170069501,2	K562	blood:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12116788	0.83[EUR][1000 genomes]
rs12117652	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12117699	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12120025	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12120968	0.83[EUR][1000 genomes]
rs12122794	1.00[EUR][1000 genomes]
rs12126443	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12128116	1.00[EUR][1000 genomes]
rs12129144	1.00[EUR][1000 genomes]
rs12130724	0.93[EUR][1000 genomes]
rs12131638	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12132530	0.83[EUR][1000 genomes]
rs12132575	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12133411	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12140845	0.87[CEU][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12141501	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12141522	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12142155	1.00[EUR][1000 genomes]
rs12144057	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12144085	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12145948	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1411465	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41272485	0.83[EUR][1000 genomes]
rs488488	0.85[CEU][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56147946	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs688565	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014033	chr1:169968488-170453021	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535200	chr1:169968488-170453021	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv999310	chr1:170065943-170223350	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs12121055	METTL18	cis	Thyroid	GTEx
rs12121055	METTL18	cis	Esophagus Mucosa	GTEx
rs12121055	METTL18	cis	Muscle Skeletal	GTEx
rs12121055	MGC9084	cis	multi-tissue	Pritchard
rs12121055	METTL18	cis	Esophagus Muscularis	GTEx
rs12121055	METTL18	cis	Artery Aorta	GTEx
rs12121055	C1orf156	Cis_1M	lymphoblastoid	RTeQTL
rs12121055	METTL18	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:170064400-170068000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr1:170065600-170068200	Weak transcription	HUES48 Cell Line	embryonic stem cell

Quick Search: