Variant report

Variant	rs2487286
Chromosome Location	chr1:192851123-192851124
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1231726	0.88[EUR][1000 genomes]
rs1231728	0.88[EUR][1000 genomes]
rs1231729	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1231730	0.84[EUR][1000 genomes]
rs1231731	0.84[EUR][1000 genomes]
rs1231732	0.84[EUR][1000 genomes]
rs1231733	0.84[EUR][1000 genomes]
rs1231734	0.84[EUR][1000 genomes]
rs1231735	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1231736	0.84[EUR][1000 genomes]
rs1231738	0.88[EUR][1000 genomes]
rs1231746	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1231747	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1231749	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1231750	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1231751	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1231754	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1231757	0.82[EUR][1000 genomes]
rs1231758	0.82[EUR][1000 genomes]
rs1231759	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1231760	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1231762	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1231763	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1231764	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1231765	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1231766	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1234722	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1234723	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12733094	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12756049	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12756953	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12757265	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12758285	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12758449	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1535034	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1620819	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1623376	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16834948	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17524307	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17524545	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17590238	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1890973	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2473740	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2473744	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2473745	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2487284	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2487288	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2746068	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2797395	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34120198	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34424396	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34562719	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34732347	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34838432	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34867585	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35040499	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35471066	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35845034	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35879519	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35997646	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36005848	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4098556	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4332340	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4451535	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4658075	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58739396	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60382150	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60756700	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6686024	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6692203	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs710144	0.86[EUR][1000 genomes]
rs710145	0.85[EUR][1000 genomes]
rs710146	0.85[EUR][1000 genomes]
rs863604	0.88[EUR][1000 genomes]
rs949982	0.84[EUR][1000 genomes];0.85[ASN][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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv548660	chr1:192609268-192945348	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	esv3367686	chr1:192850029-192852177	Weak transcription Flanking Active TSS Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
4	esv3356143	chr1:192850279-192851727	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192843800-192861800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:192848000-192852400	Weak transcription	Pancreas	Pancrea
3	chr1:192848400-192853600	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:192850200-192854600	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr1:192850400-192854800	Weak transcription	Primary neutrophils fromperipheralblood	blood

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