Variant report

Variant	rs4733729
Chromosome Location	chr8:130732295-130732296
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	chr8:130732259..130735444-chr8:130737069..130741081,4	K562	blood:

Variant related genes	Relation type
ENSG00000224110	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10092783	0.88[ASW][hapmap];0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.93[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10104593	0.86[AMR][1000 genomes]
rs12678545	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4144736	0.85[AMR][1000 genomes]
rs4144737	0.80[MEX][hapmap]
rs4144738	1.00[ASW][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.85[AMR][1000 genomes]
rs4285452	0.88[GIH][hapmap]
rs4335095	0.86[AMR][1000 genomes]
rs4345520	0.85[AMR][1000 genomes]
rs4425724	1.00[ASW][hapmap];0.83[CHD][hapmap];0.97[GIH][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.92[AMR][1000 genomes]
rs4518624	0.88[ASW][hapmap];0.97[GIH][hapmap];0.91[TSI][hapmap]
rs4527833	0.81[CEU][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes]
rs4571702	0.86[AMR][1000 genomes]
rs4582526	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4733557	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4733727	0.92[AMR][1000 genomes]
rs4733728	0.92[AMR][1000 genomes]
rs4733734	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4994386	0.91[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7004355	0.89[AMR][1000 genomes]
rs7341636	0.92[AMR][1000 genomes]
rs7816625	0.84[AMR][1000 genomes]
rs7822056	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7828785	0.85[AMR][1000 genomes]
rs7846627	1.00[ASW][hapmap];0.86[CHD][hapmap];0.97[GIH][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.90[AMR][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	nsv8387	chr8:130711059-130756654	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv891447	chr8:130724556-130754719	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv428524	chr8:130731660-130894467	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4733729	GSDMC	cis	Muscle Skeletal	GTEx
rs4733729	MLZE	cis	lesional skin	skin_eQTL
rs4733729	PTMA	trans	cerebellum	SCAN
rs4733729	GSDMC	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130723200-130734600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:130723400-130740400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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