Variant report

Variant	rs2158515
Chromosome Location	chr12:48507668-48507669
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:48503414..48505504-chr12:48505942..48508291,3	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1049392	0.93[ASN][1000 genomes]
rs10747529	0.96[CEU][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10875726	0.81[EUR][1000 genomes]
rs10875727	0.81[EUR][1000 genomes]
rs10875739	0.96[CEU][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10875741	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10875744	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10875754	0.89[CEU][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11168404	0.86[ASN][1000 genomes]
rs11168412	0.93[ASN][1000 genomes]
rs11168417	0.90[ASN][1000 genomes]
rs11168419	0.90[ASN][1000 genomes]
rs11168424	0.91[ASN][1000 genomes]
rs11832455	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12228924	0.93[ASN][1000 genomes]
rs12425679	0.90[ASN][1000 genomes]
rs1978161	0.82[ASN][1000 genomes]
rs2107640	0.90[ASN][1000 genomes]
rs2286020	0.90[ASN][1000 genomes]
rs3825403	0.96[CEU][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4258439	0.96[CEU][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56129148	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57430775	0.90[ASN][1000 genomes]
rs58540891	0.93[ASN][1000 genomes]
rs58556309	0.90[ASN][1000 genomes]
rs7138917	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7299704	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs7302354	0.93[ASN][1000 genomes]
rs7303677	0.84[ASN][1000 genomes]
rs7304428	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73104071	0.93[ASN][1000 genomes]
rs886589	0.90[ASN][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	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv508673	chr12:48489786-48567138	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2158515	ZNF641	cis	Whole Blood	GTEx
rs2158515	RP1-228P16.1	cis	Thyroid	GTEx
rs2158515	RP1-228P16.1	cis	Esophagus Muscularis	GTEx
rs2158515	RP1-228P16.1	cis	Artery Tibial	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48501000-48508800	Weak transcription	K562	blood
2	chr12:48501200-48512200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr12:48505200-48512000	Weak transcription	Hela-S3	cervix

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