Variant report

Variant	rs6468897
Chromosome Location	chr8:104934028-104934029
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10091544	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10112626	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1027459	0.81[ASN][1000 genomes]
rs12675809	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13248054	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13257910	0.83[EUR][1000 genomes]
rs13273017	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.89[JPT][hapmap];0.95[MKK][hapmap];0.94[TSI][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1496853	0.81[ASN][1000 genomes]
rs1603495	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1603496	0.83[ASN][1000 genomes]
rs17816262	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1845928	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1851150	0.82[ASN][1000 genomes]
rs1851152	0.81[ASN][1000 genomes]
rs1949617	0.81[ASN][1000 genomes]
rs1954900	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1954901	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1954905	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2023029	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2935299	0.82[ASN][1000 genomes]
rs3104252	0.81[ASN][1000 genomes]
rs3107466	0.81[ASN][1000 genomes]
rs3107472	0.80[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap]
rs3110468	0.81[ASN][1000 genomes]
rs4386947	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4463386	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4467913	0.87[EUR][1000 genomes]
rs4549737	0.82[EUR][1000 genomes]
rs4618663	0.87[EUR][1000 genomes]
rs4734735	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4734737	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4734742	0.87[EUR][1000 genomes]
rs55959188	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57773033	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62527146	0.85[EUR][1000 genomes]
rs6468895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6468896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6468899	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6468900	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6983436	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6986875	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6988613	0.87[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs6993567	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7014986	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7357535	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7357566	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7462119	0.83[ASN][1000 genomes]
rs7815854	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7830448	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7837318	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9692610	0.84[EUR][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	esv2752692	chr8:104520824-105123824	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1031195	chr8:104601231-105194208	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
3	nsv831415	chr8:104907757-105115320	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6468897	BAALC	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104919600-104938600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:104924200-104938600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:104929400-104949600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:104930000-104949400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr8:104933600-104943800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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