Variant report

Variant	rs4144737
Chromosome Location	chr8:130761182-130761183
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	chr8:130761153..130763630-chr8:130764649..130766910,2	K562	blood:

Variant related genes	Relation type
ENSG00000147697	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10092783	0.84[MEX][hapmap];0.85[TSI][hapmap]
rs10104593	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1989396	0.80[ASN][1000 genomes]
rs4144736	0.87[CEU][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4144738	0.88[CEU][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4335095	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4345520	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4425724	0.84[CEU][hapmap];0.88[MEX][hapmap];0.83[TSI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4509279	0.80[ASN][1000 genomes]
rs4518624	0.84[CEU][hapmap];0.85[TSI][hapmap]
rs4527833	1.00[ASW][hapmap];0.89[CHD][hapmap];0.98[GIH][hapmap];0.86[MKK][hapmap];0.91[TSI][hapmap];0.84[YRI][hapmap];0.87[AMR][1000 genomes]
rs4571702	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4733727	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4733728	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4733729	0.80[MEX][hapmap]
rs4733734	0.80[AMR][1000 genomes]
rs5006712	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61199848	0.80[ASN][1000 genomes]
rs6470766	0.91[CHB][hapmap];0.89[CHD][hapmap]
rs6470768	0.95[CHB][hapmap];0.80[ASN][1000 genomes]
rs6470769	0.95[CHB][hapmap];0.80[ASN][1000 genomes]
rs6470778	0.82[ASN][1000 genomes]
rs6994279	0.91[CHB][hapmap]
rs6998296	0.91[CHB][hapmap]
rs7004355	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7011557	0.95[CHB][hapmap];0.80[ASN][1000 genomes]
rs7012062	0.80[ASN][1000 genomes]
rs7012249	0.91[CHB][hapmap];0.80[ASN][1000 genomes]
rs7341636	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7816625	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7822056	0.81[AMR][1000 genomes]
rs7828785	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7846627	0.84[CEU][hapmap];0.84[MEX][hapmap];0.83[TSI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs4144737	GSDMC	cis	Esophagus Mucosa	GTEx
rs4144737	MLZE	cis	uninvolved skin	skin_eQTL
rs4144737	MLZE	cis	lesional skin	skin_eQTL
rs4144737	MLZE	cis	normal skin	skin_eQTL
rs4144737	GSDMC	cis	Muscle Skeletal	GTEx

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130754600-130766000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr8:130755600-130764000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:130758200-130765400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:130758400-130763800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:130759200-130765800	Strong transcription	NHEK	skin
6	chr8:130759400-130761600	Weak transcription	Spleen	Spleen
7	chr8:130759800-130765800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:130760200-130765800	Strong transcription	Esophagus	oesophagus

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