Variant report

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10507900	0.88[EUR][1000 genomes]
rs11619959	0.87[EUR][1000 genomes]
rs12019641	0.85[EUR][1000 genomes]
rs12428029	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12873086	0.81[ASN][1000 genomes]
rs1414110	0.82[EUR][1000 genomes]
rs2248409	0.83[EUR][1000 genomes]
rs2248413	0.88[EUR][1000 genomes]
rs2248563	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2329137	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2329138	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2783085	0.89[EUR][1000 genomes]
rs2802634	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2802638	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2802640	0.89[EUR][1000 genomes]
rs2802641	0.88[EUR][1000 genomes]
rs35661635	0.89[EUR][1000 genomes]
rs4885658	0.88[EUR][1000 genomes]
rs4885660	0.89[EUR][1000 genomes]
rs7327527	0.84[EUR][1000 genomes]
rs7333106	0.81[ASN][1000 genomes]
rs7338200	0.81[ASN][1000 genomes]
rs7984156	0.96[CEU][hapmap];0.81[TSI][hapmap];0.85[EUR][1000 genomes]
rs915260	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9530958	0.91[EUR][1000 genomes]
rs9530959	0.89[EUR][1000 genomes]
rs9545191	0.84[AMR][1000 genomes];0.92[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	nsv900588	chr13:80216846-80421340	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1039333	chr13:80289936-80333167	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2262460	HIST1H2AM	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80309600-80311400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr13:80309600-80311600	Enhancers	HMEC	breast
3	chr13:80309800-80311600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr13:80309800-80324400	Weak transcription	Right Atrium	heart
5	chr13:80310000-80311400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr13:80310000-80311600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr13:80310000-80315000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr13:80310000-80315000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr13:80310000-80315000	Weak transcription	HSMM	muscle
10	chr13:80310200-80311400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr13:80310200-80311400	Enhancers	Esophagus	oesophagus
12	chr13:80310200-80311400	Enhancers	Placenta Amnion	Placenta Amnion
13	chr13:80310200-80311400	Enhancers	NHEK	skin
14	chr13:80310200-80315200	Weak transcription	Left Ventricle	heart
15	chr13:80310400-80319400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr13:80310600-80315000	Weak transcription	HSMMtube	muscle

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