Variant report

Variant	rs879318
Chromosome Location	chr8:36168443-36168444
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1107566	0.89[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1107567	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1107568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16884764	0.81[AFR][1000 genomes]
rs16884807	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16884825	1.00[YRI][hapmap]
rs16884876	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16884883	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16884894	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16884902	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41408344	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6468359	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6983120	1.00[ASW][hapmap];0.85[MKK][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes]
rs6984135	0.82[AFR][1000 genomes]
rs6987238	0.82[AFR][1000 genomes]
rs7015213	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73578572	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73586355	0.82[AFR][1000 genomes]
rs73586362	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73586363	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73586366	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73586369	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73592006	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73592008	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73592010	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73592012	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73592014	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73592019	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73592021	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73592024	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73592026	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7819939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7831591	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7834732	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7835665	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7837634	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs879317	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533420	chr8:35358115-36227536	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1024552	chr8:35655964-36210907	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv539548	chr8:35655964-36210907	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv890718	chr8:35948467-36224134	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs879318	HEBP2	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:36167400-36170400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:36168000-36168600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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