Variant report

Variant	rs1251591
Chromosome Location	chr1:76419522-76419523
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11162053	0.83[ASN][1000 genomes]
rs12095069	0.83[ASN][1000 genomes]
rs12402230	0.93[ASN][1000 genomes]
rs12402347	0.86[ASN][1000 genomes]
rs12405994	0.86[ASN][1000 genomes]
rs12408897	0.86[ASN][1000 genomes]
rs12410724	0.83[ASN][1000 genomes]
rs1251531	0.81[ASN][1000 genomes]
rs1251539	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1251550	0.81[ASN][1000 genomes]
rs1251551	0.81[ASN][1000 genomes]
rs1251556	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1251560	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1251579	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1251580	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1251581	0.94[ASN][1000 genomes]
rs1251582	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1251583	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1251587	0.94[ASN][1000 genomes]
rs1251588	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1251594	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12732495	0.91[ASN][1000 genomes]
rs1340684	0.82[ASN][1000 genomes]
rs1361487	0.87[ASN][1000 genomes]
rs1417402	0.86[ASN][1000 genomes]
rs1438176	0.83[ASN][1000 genomes]
rs1658737	0.81[ASN][1000 genomes]
rs1689271	0.82[ASN][1000 genomes]
rs17097821	0.83[ASN][1000 genomes]
rs17097836	0.83[ASN][1000 genomes]
rs17097837	0.83[ASN][1000 genomes]
rs17097841	0.83[ASN][1000 genomes]
rs17097863	0.83[ASN][1000 genomes]
rs17097864	0.83[ASN][1000 genomes]
rs17097867	0.82[ASN][1000 genomes]
rs1770876	0.81[ASN][1000 genomes]
rs1796799	0.81[ASN][1000 genomes]
rs1796812	0.89[ASN][1000 genomes]
rs1873894	0.88[ASN][1000 genomes]
rs1890967	0.83[ASN][1000 genomes]
rs1938322	0.81[ASN][1000 genomes]
rs1938323	0.83[ASN][1000 genomes]
rs2792664	0.81[ASN][1000 genomes]
rs34574524	0.83[ASN][1000 genomes]
rs3920847	0.86[ASN][1000 genomes]
rs4949619	0.83[ASN][1000 genomes]
rs4949681	0.88[ASN][1000 genomes]
rs4949685	0.83[ASN][1000 genomes]
rs58722308	0.94[ASN][1000 genomes]
rs6685657	0.82[ASN][1000 genomes]
rs6693002	0.81[ASN][1000 genomes]
rs7418941	0.86[ASN][1000 genomes]
rs7521538	0.94[ASN][1000 genomes]
rs7524665	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs931506	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014072	chr1:76200531-76460726	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv535005	chr1:76200531-76460726	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv998499	chr1:76361784-76598712	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76402800-76420000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:76415800-76420400	Weak transcription	Brain Anterior Caudate	brain
3	chr1:76419000-76420800	Enhancers	A549	lung
4	chr1:76419000-76421000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:76419200-76419600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:76419200-76419600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:76419200-76420800	Enhancers	HepG2	liver
8	chr1:76419200-76421000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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