Variant report

Variant	rs11918522
Chromosome Location	chr3:112535057-112535058
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:112359489..112361837-chr3:112533181..112535560,3	MCF-7	breast:
2	chr3:112524734..112528848-chr3:112531352..112536071,5	MCF-7	breast:
3	chr3:112355777..112361345-chr3:112530635..112535712,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000091986	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1125377	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11918738	0.94[ASN][1000 genomes]
rs1387015	0.90[MEX][hapmap]
rs1500877	0.86[EUR][1000 genomes]
rs16860073	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs16860075	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs16860127	0.85[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.91[MKK][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16860128	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs16860141	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1873041	1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap]
rs1948164	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2037820	0.80[TSI][hapmap]
rs2078008	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4682117	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4682119	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4682432	0.94[ASN][1000 genomes]
rs4682434	0.86[MEX][hapmap]
rs66635385	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6770923	0.80[TSI][hapmap]
rs6773083	0.81[MEX][hapmap]
rs6809029	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6809039	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7610094	0.84[EUR][1000 genomes]
rs7625445	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7625533	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7637319	0.85[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.82[MKK][hapmap];0.89[TSI][hapmap]
rs7642393	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7642984	0.82[CHD][hapmap];0.82[TSI][hapmap];0.81[EUR][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	esv3329419	chr3:112236688-112620544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv432477	chr3:112390310-112603310	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv877343	chr3:112470586-112597706	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11918522	PHLDB2	cis	parietal	SCAN
rs11918522	ABHD10	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112530200-112538800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr3:112533000-112535200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr3:112533000-112536200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr3:112533200-112536600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr3:112533200-112537200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr3:112533200-112543200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr3:112533600-112536200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:112533600-112537200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr3:112533800-112536600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr3:112534000-112535600	Weak transcription	Primary B cells from peripheral blood	blood
11	chr3:112534400-112535400	Enhancers	A549	lung
12	chr3:112534400-112535600	Enhancers	NHLF	lung
13	chr3:112534600-112535200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr3:112534600-112535600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr3:112534600-112535600	Enhancers	NHDF-Ad	bronchial
16	chr3:112535000-112535400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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