Variant report

Variant	rs2445175
Chromosome Location	chr11:18263220-18263221
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	POLR2A	chr11:18262551-18269002	MCF10A-Er-Src	breast:	n/a	n/a
2	CTCF	chr11:18263220-18263370	HMF	breast:	n/a	n/a

Variant related genes	Relation type
SAA4	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10766463	0.83[EUR][1000 genomes]
rs10832908	0.92[CEU][hapmap];0.86[GIH][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11024561	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11024563	0.81[EUR][1000 genomes]
rs11024578	0.92[CEU][hapmap];0.90[GIH][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1378609	1.00[CHB][hapmap]
rs2168363	0.92[CEU][hapmap];0.86[GIH][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2445145	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2445174	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs2445176	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2445225	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2445226	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2460831	0.84[EUR][1000 genomes]
rs2468779	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2468789	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs2468790	0.90[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2468856	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2925145	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3100768	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs4757628	0.83[EUR][1000 genomes]
rs4757629	0.83[EUR][1000 genomes]
rs4757630	0.83[EUR][1000 genomes]
rs56310011	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67006796	0.83[EUR][1000 genomes]
rs67712345	0.83[EUR][1000 genomes]
rs7103794	0.83[EUR][1000 genomes]
rs7117484	0.83[EUR][1000 genomes]
rs7117890	0.83[EUR][1000 genomes]
rs7935726	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv428569	chr11:18194030-18350869	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2445175	LDHC	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18258800-18265800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:18259600-18266600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr11:18260000-18278200	Weak transcription	Aorta	Aorta

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