Variant report

Variant	rs7846627
Chromosome Location	chr8:130736263-130736264
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr8:130736184-130736486	K562	blood:	n/a	n/a
2	YY1	chr8:130736206-130736512	A549	lung:	n/a	n/a
3	MAX	chr8:130736168-130736506	K562	blood:	n/a	n/a
4	YY1	chr8:130736184-130736432	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:130685068..130688410-chr8:130735715..130739405,3	K562	blood:
2	chr8:130593091..130595640-chr8:130733142..130736387,3	K562	blood:

Variant related genes	Relation type
ENSG00000224110	TF binding region

Extended variants
information (count: 55 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10092783	0.89[ASW][hapmap];0.86[CHD][hapmap];0.95[GIH][hapmap];0.83[MEX][hapmap];0.83[AMR][1000 genomes]
rs10104593	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10110525	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1074286	1.00[CHB][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs10808583	0.87[ASN][1000 genomes]
rs10956490	0.85[ASN][1000 genomes]
rs11984666	0.89[ASN][1000 genomes]
rs12678545	0.87[AMR][1000 genomes]
rs16904150	0.88[LWK][hapmap]
rs2062078	1.00[CHB][hapmap];0.81[CHD][hapmap];0.89[ASN][1000 genomes]
rs3886937	1.00[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs3886938	1.00[CHB][hapmap];0.81[CHD][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs4130415	0.87[ASN][1000 genomes]
rs4144736	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4144737	0.84[CEU][hapmap];0.84[MEX][hapmap];0.83[TSI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4144738	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4236747	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4285452	0.86[GIH][hapmap]
rs4335095	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4345520	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4425724	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];0.96[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4518624	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.89[MKK][hapmap];0.98[TSI][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4571702	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4733557	0.84[AMR][1000 genomes]
rs4733724	0.87[ASN][1000 genomes]
rs4733725	0.87[ASN][1000 genomes]
rs4733726	0.89[ASN][1000 genomes]
rs4733727	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4733728	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4733729	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]
rs4733732	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs4733734	0.89[AMR][1000 genomes]
rs5006712	0.81[EUR][1000 genomes]
rs60228607	0.89[ASN][1000 genomes]
rs6470763	0.87[ASN][1000 genomes]
rs6470764	0.95[CHB][hapmap];0.80[JPT][hapmap];0.84[ASN][1000 genomes]
rs6470765	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs6651255	0.87[ASN][1000 genomes]
rs6985118	1.00[CHB][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs6986256	0.88[ASN][1000 genomes]
rs7004355	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7341636	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7388479	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7814941	0.87[ASN][1000 genomes]
rs7815955	0.87[ASN][1000 genomes]
rs7816131	0.87[ASN][1000 genomes]
rs7816342	0.87[ASN][1000 genomes]
rs7816625	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7822056	0.87[AMR][1000 genomes]
rs7826493	0.87[ASN][1000 genomes]
rs7828785	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7841981	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7846627	GSDMC	cis	Esophagus Mucosa	GTEx
rs7846627	GSDMC	cis	Muscle Skeletal	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130723400-130740400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr8:130734800-130737200	Weak transcription	K562	blood
3	chr8:130735400-130738400	Weak transcription	Osteobl	bone
4	chr8:130735400-130742600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:130735600-130737200	Weak transcription	A549	lung

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