Variant report

Variant	rs4132537
Chromosome Location	chr3:100220307-100220308
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	chr3:100213098..100216032-chr3:100220024..100221553,2	K562	blood:
2	chr3:100210709..100213692-chr3:100216752..100220547,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000181458	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11920006	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11923942	0.95[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs11926280	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11927516	0.95[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs12636805	0.86[ASN][1000 genomes]
rs12639465	0.85[JPT][hapmap]
rs4928097	0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs4928098	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58059387	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59299896	0.87[ASN][1000 genomes]
rs59771628	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60071944	0.87[ASN][1000 genomes]
rs62276520	0.87[ASN][1000 genomes]
rs62276521	0.87[ASN][1000 genomes]
rs62276522	0.84[ASN][1000 genomes]
rs62276523	0.84[ASN][1000 genomes]
rs62276526	0.95[ASN][1000 genomes]
rs62276527	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6441285	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6441300	0.86[JPT][hapmap]
rs6763079	0.94[CHB][hapmap];0.87[ASN][1000 genomes]
rs6763178	0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs67774605	0.87[ASN][1000 genomes]
rs6789867	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73152126	0.82[ASN][1000 genomes]
rs7429277	0.82[JPT][hapmap]
rs7430698	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7430715	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7616839	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7619507	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7630198	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7640470	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7653196	0.86[JPT][hapmap]
rs9813069	0.89[ASN][1000 genomes]
rs9851429	0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877218	chr3:100176360-100267619	Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4132537	TMEM45A	Cis_1M	lymphoblastoid	RTeQTL
rs4132537	TMEM45A	cis	multi-tissue	Pritchard

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100212400-100222800	Weak transcription	Ovary	ovary
2	chr3:100212800-100224800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr3:100214000-100223600	Weak transcription	Fetal Lung	lung
4	chr3:100216200-100224400	Weak transcription	HSMMtube	muscle
5	chr3:100216200-100225400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:100216200-100229000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr3:100217400-100224800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr3:100218600-100220400	Enhancers	Placenta Amnion	Placenta Amnion
9	chr3:100218600-100221200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:100219000-100220400	Enhancers	HSMM	muscle
11	chr3:100219800-100224800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr3:100220000-100220400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr3:100220000-100220400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr3:100220000-100220600	Enhancers	Osteobl	bone
15	chr3:100220200-100220400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:100220200-100220400	Enhancers	Liver	Liver
17	chr3:100220200-100224600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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