Variant report

Variant	rs2062078
Chromosome Location	chr8:130734461-130734462
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:
2	chr8:130593091..130595640-chr8:130733142..130736387,3	K562	blood:

Variant related genes	Relation type
ENSG00000224110	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10104593	0.87[ASN][1000 genomes]
rs10109335	0.84[EUR][1000 genomes]
rs1074286	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10808583	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10956487	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10956488	0.86[AMR][1000 genomes]
rs10956490	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10956491	0.84[EUR][1000 genomes]
rs11984666	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1989396	0.84[EUR][1000 genomes]
rs3886937	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3886938	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4128895	0.84[EUR][1000 genomes]
rs4130415	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4144736	1.00[CHB][hapmap];0.80[JPT][hapmap];0.84[ASN][1000 genomes]
rs4144738	1.00[CHB][hapmap];0.81[CHD][hapmap];0.80[JPT][hapmap];0.86[ASN][1000 genomes]
rs4236748	0.84[EUR][1000 genomes]
rs4335095	0.87[ASN][1000 genomes]
rs4345520	0.87[ASN][1000 genomes]
rs4360262	0.80[EUR][1000 genomes]
rs4366050	0.84[EUR][1000 genomes]
rs4367506	0.84[EUR][1000 genomes]
rs4425724	1.00[CHB][hapmap];0.82[CHD][hapmap];0.80[JPT][hapmap];0.89[ASN][1000 genomes]
rs4509279	0.84[EUR][1000 genomes]
rs4559213	0.84[EUR][1000 genomes]
rs4571702	0.87[ASN][1000 genomes]
rs4584118	0.80[EUR][1000 genomes]
rs4613961	0.84[EUR][1000 genomes]
rs4633026	0.84[EUR][1000 genomes]
rs4733724	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4733725	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4733726	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4733727	0.89[ASN][1000 genomes]
rs4733728	0.89[ASN][1000 genomes]
rs4733732	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4733737	0.84[EUR][1000 genomes]
rs4733738	0.84[EUR][1000 genomes]
rs60228607	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61199848	0.84[EUR][1000 genomes]
rs6470763	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6470764	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6470765	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6470766	0.83[CEU][hapmap];0.89[TSI][hapmap];0.83[EUR][1000 genomes]
rs6470768	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs6470769	0.84[EUR][1000 genomes]
rs6470770	0.84[EUR][1000 genomes]
rs6470771	0.83[EUR][1000 genomes]
rs6470772	0.84[EUR][1000 genomes]
rs6470773	0.84[EUR][1000 genomes]
rs6470778	0.84[EUR][1000 genomes]
rs6651255	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6983071	0.84[EUR][1000 genomes]
rs6984575	0.84[EUR][1000 genomes]
rs6985118	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6986256	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6994279	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs6998296	0.83[CEU][hapmap];0.83[EUR][1000 genomes]
rs6998472	0.84[EUR][1000 genomes]
rs7004355	0.87[ASN][1000 genomes]
rs7011557	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs7012062	0.84[EUR][1000 genomes]
rs7012249	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs7016313	0.84[EUR][1000 genomes]
rs7017052	0.84[EUR][1000 genomes]
rs7017235	0.84[EUR][1000 genomes]
rs7341636	0.89[ASN][1000 genomes]
rs7388479	0.86[ASN][1000 genomes]
rs7814941	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7815955	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7816131	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7816342	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7816625	0.87[ASN][1000 genomes]
rs7826493	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7828785	0.87[ASN][1000 genomes]
rs7833174	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7839339	0.84[EUR][1000 genomes]
rs7841981	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7844275	0.84[EUR][1000 genomes]
rs7846627	1.00[CHB][hapmap];0.81[CHD][hapmap];0.89[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	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

Variant related diseases (count:1)

Disease	PMID	Source
Height	25429064	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2062078	MLZE	cis	lesional skin	skin_eQTL

Chromatin state (count:4 , 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
3	chr8:130733800-130734800	Enhancers	K562	blood
4	chr8:130734000-130735000	Enhancers	HSMMtube	muscle

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