Variant report

Variant	rs1862394
Chromosome Location	chr5:151668801-151668802
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:151668177..151670691-chr5:151675997..151677580,2	MCF-7	breast:
2	chr5:151572609..151573576-chr5:151667738..151668966,3	MCF-7	breast:
3	chr5:151523874..151524765-chr5:151668143..151669088,3	MCF-7	breast:
4	chr5:151523874..151524433-chr5:151668425..151669088,2	MCF-7	breast:

Extended variants
information (count: 70 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10037446	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10059148	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10064093	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10064171	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1006969	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10214018	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10214020	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10223089	0.88[EUR][1000 genomes]
rs10477014	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11167575	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11167577	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11954622	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12110035	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12187043	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12187221	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13154938	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13154974	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13155261	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13172915	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13173220	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13180768	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1422349	0.89[EUR][1000 genomes]
rs1592895	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1833649	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1833651	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1833652	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1862285	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1862393	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1862395	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1862396	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1862397	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1895323	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1922667	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1922668	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1922669	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2016865	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2161291	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2194143	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2194144	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2216643	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2216644	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35868344	0.87[EUR][1000 genomes]
rs4034960	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4034961	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4034962	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4034965	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4273593	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4552577	0.88[EUR][1000 genomes]
rs4552578	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4569858	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55655970	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61254880	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61579841	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62394475	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62394502	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62394507	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6860799	0.83[EUR][1000 genomes]
rs6867177	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6876527	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6882001	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7709568	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7709598	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7709605	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7709816	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7709990	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7729379	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs918460	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs918461	0.80[AMR][1000 genomes];0.88[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	nsv1023828	chr5:151522149-151956217	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830519	chr5:151588627-151800192	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1862394	ZNF300P1	cis	parietal	SCAN
rs1862394	PPARGC1B	cis	parietal	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:151667000-151669000	Enhancers	Left Ventricle	heart
2	chr5:151667000-151669400	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr5:151667200-151669200	Enhancers	Right Atrium	heart
4	chr5:151667200-151669800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr5:151667800-151669400	Enhancers	Adipose Nuclei	Adipose
6	chr5:151668000-151669000	Enhancers	Aorta	Aorta
7	chr5:151668000-151669000	Enhancers	Liver	Liver
8	chr5:151668000-151669000	Enhancers	Ovary	ovary
9	chr5:151668000-151669200	Enhancers	Fetal Muscle Leg	muscle
10	chr5:151668000-151669400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:151668200-151669000	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr5:151668600-151669000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:151668800-151669200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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