Variant report

Variant	rs10091544
Chromosome Location	chr8:104931609-104931610
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:104929972..104931758-chr8:104936150..104938844,2	MCF-7	breast:

Extended variants
information (count: 69 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10089467	0.92[CHB][hapmap]
rs10089978	0.89[ASN][1000 genomes]
rs10093057	0.86[CHB][hapmap];0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs10103621	0.92[CHB][hapmap]
rs10108247	0.89[ASN][1000 genomes]
rs10112626	0.83[AMR][1000 genomes]
rs10955332	0.89[ASN][1000 genomes]
rs10955334	0.86[ASN][1000 genomes]
rs10955336	0.89[ASN][1000 genomes]
rs12155936	0.89[ASN][1000 genomes]
rs12156016	0.89[ASN][1000 genomes]
rs12544699	0.84[CHB][hapmap]
rs12675494	0.86[ASN][1000 genomes]
rs12675809	0.87[AMR][1000 genomes]
rs12679980	0.89[ASN][1000 genomes]
rs12682214	0.89[ASN][1000 genomes]
rs13248054	0.87[EUR][1000 genomes]
rs13273017	0.86[CEU][hapmap];0.91[GIH][hapmap];0.81[MKK][hapmap];0.85[TSI][hapmap];0.88[EUR][1000 genomes]
rs1402442	0.84[CHB][hapmap]
rs1533734	0.84[CHB][hapmap]
rs1603495	0.86[EUR][1000 genomes]
rs16870792	0.84[ASN][1000 genomes]
rs16870816	0.90[ASN][1000 genomes]
rs17816262	0.86[EUR][1000 genomes]
rs17817357	0.89[ASN][1000 genomes]
rs1845928	0.87[EUR][1000 genomes]
rs1954900	0.88[AMR][1000 genomes]
rs1954905	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2023029	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2173081	0.89[ASN][1000 genomes]
rs2935296	0.92[CHB][hapmap]
rs3919234	0.86[ASN][1000 genomes]
rs4386947	0.81[AMR][1000 genomes]
rs4446700	0.86[ASN][1000 genomes]
rs4463386	0.87[EUR][1000 genomes]
rs4734735	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4734737	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55880815	0.90[ASN][1000 genomes]
rs55959188	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56232122	0.89[ASN][1000 genomes]
rs56369021	0.89[ASN][1000 genomes]
rs57773033	0.90[AMR][1000 genomes]
rs58345884	0.89[ASN][1000 genomes]
rs6468895	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6468896	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6468897	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6468899	0.88[AMR][1000 genomes]
rs6983436	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6986683	0.87[ASN][1000 genomes]
rs6986692	0.81[ASN][1000 genomes]
rs6986875	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6993567	0.81[AMR][1000 genomes]
rs7014986	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs72681360	0.89[ASN][1000 genomes]
rs7357460	0.86[ASN][1000 genomes]
rs7357535	0.88[AMR][1000 genomes]
rs7357566	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7815854	0.87[AMR][1000 genomes]
rs7830448	0.85[AMR][1000 genomes]
rs7836680	0.84[CHB][hapmap]
rs7837318	0.85[AFR][1000 genomes]
rs7840870	0.92[CHB][hapmap];0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs9297340	0.92[CHB][hapmap]
rs9650010	0.84[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs9650011	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1016387	chr8:104578389-104931853	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	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
4	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
rs10091544	BAALC	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104899400-104933400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:104919600-104938600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:104924200-104938600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr8:104929400-104949600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:104930000-104949400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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