Variant report

Variant	rs13134294
Chromosome Location	chr4:88154128-88154129
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:88153381..88155637-chr4:88155738..88158294,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10049549	0.90[CEU][hapmap];0.84[AMR][1000 genomes]
rs10050249	0.84[AMR][1000 genomes]
rs12710836	0.90[CEU][hapmap];0.84[AMR][1000 genomes]
rs13105620	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs13126252	0.90[CEU][hapmap];0.84[AMR][1000 genomes]
rs13134907	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs13140294	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13143182	1.00[AFR][1000 genomes]
rs13145898	0.81[AMR][1000 genomes]
rs13435811	0.89[CEU][hapmap];0.84[AMR][1000 genomes]
rs17704256	0.89[CEU][hapmap]
rs17755195	0.90[CEU][hapmap];0.84[AMR][1000 genomes]
rs2035404	0.81[AMR][1000 genomes]
rs2054611	0.81[AMR][1000 genomes]
rs28390247	0.84[AMR][1000 genomes]
rs28523549	0.84[AMR][1000 genomes]
rs28621526	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs28655413	0.84[AMR][1000 genomes]
rs28668976	0.81[AMR][1000 genomes]
rs28773027	0.84[AMR][1000 genomes]
rs34128785	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34242006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34422965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34589806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35133616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35534149	1.00[AFR][1000 genomes]
rs35542725	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs36123985	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs71607407	1.00[AFR][1000 genomes]
rs71607410	0.84[AMR][1000 genomes]
rs9999554	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997750	chr4:87933945-88264127	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1007020	chr4:88046263-88235018	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv537169	chr4:88046263-88235018	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv1014846	chr4:88151614-88188335	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv537170	chr4:88151614-88188335	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13134294	KLHL8	cis	multi-tissue	Pritchard
rs13134294	MAPKAPK5	trans	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88142400-88155200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:88142400-88156400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:88145800-88156800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:88149800-88156600	Weak transcription	Hela-S3	cervix
5	chr4:88151400-88156800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr4:88151600-88156400	Weak transcription	K562	blood
7	chr4:88152000-88155600	Weak transcription	Fetal Intestine Large	intestine
8	chr4:88152400-88156600	Weak transcription	Fetal Intestine Small	intestine
9	chr4:88152600-88154200	Weak transcription	Placenta	Placenta

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