Variant report

Variant	rs17021264
Chromosome Location	chr4:147150481-147150482
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:147148699..147151404-chr4:147153846..147155877,2	K562	blood:
2	chr4:147143803..147146712-chr4:147149656..147151199,2	K562	blood:
3	chr4:147150281..147153260-chr4:147161071..147162897,2	K562	blood:

Variant related genes	Relation type
ENSG00000250673	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10006650	0.93[ASN][1000 genomes]
rs10014590	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12374409	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16998674	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16998675	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17021239	0.85[ASN][1000 genomes]
rs17021241	0.85[ASN][1000 genomes]
rs17021249	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2278473	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28605093	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3860098	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55762555	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55844150	0.85[ASN][1000 genomes]
rs56331233	0.85[ASN][1000 genomes]
rs60241278	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60701696	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62326849	0.85[ASN][1000 genomes]
rs62326850	0.85[ASN][1000 genomes]
rs62326851	0.85[ASN][1000 genomes]
rs6813969	0.85[ASN][1000 genomes]
rs6816198	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6835911	0.85[ASN][1000 genomes]
rs6838174	0.85[ASN][1000 genomes]
rs6843421	0.85[ASN][1000 genomes]
rs6848943	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6849193	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6854775	0.86[ASN][1000 genomes]
rs72727960	0.85[ASN][1000 genomes]
rs9993525	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17021264	RP11-6L6.2	cis	lung	GTEx
rs17021264	RP11-6L6.2	cis	Adipose Subcutaneous	GTEx
rs17021264	RP11-6L6.2	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
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