Variant report

Variant	rs2709545
Chromosome Location	chr2:133452430-133452431
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1006788	0.81[EUR][1000 genomes]
rs10179785	0.84[ASN][1000 genomes]
rs10189715	0.82[ASN][1000 genomes]
rs1131671	0.80[ASN][1000 genomes]
rs13028563	0.83[ASN][1000 genomes]
rs1430630	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1430631	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1430632	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17396523	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17396537	0.84[ASN][1000 genomes]
rs17396607	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1897166	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2033332	0.87[EUR][1000 genomes]
rs2082177	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2082179	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2082181	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2163342	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2244888	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2248193	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2250481	0.82[EUR][1000 genomes]
rs2288653	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2315599	0.84[ASN][1000 genomes]
rs2320153	0.85[ASN][1000 genomes]
rs2435612	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2566525	0.86[EUR][1000 genomes]
rs2566528	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2566529	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2566530	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2566531	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2566535	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2566536	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2566537	0.90[ASN][1000 genomes]
rs2566538	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2709520	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2709521	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2709523	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2709524	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2709525	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2709526	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2709527	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2709528	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2709532	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2709533	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2709534	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2709536	0.88[EUR][1000 genomes]
rs2709541	0.86[EUR][1000 genomes]
rs2709542	0.86[EUR][1000 genomes]
rs2709546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2709548	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2709549	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3738842	0.82[ASN][1000 genomes]
rs4340582	0.82[ASN][1000 genomes]
rs4954351	0.83[ASN][1000 genomes]
rs4954352	0.84[ASN][1000 genomes]
rs713535	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs721470	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs744821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7558213	0.81[ASN][1000 genomes]
rs9973717	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011421	chr2:132895241-133682185	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv875137	chr2:133167263-133714142	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv583158	chr2:133316092-133862100	Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv875138	chr2:133410921-133761794	Enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv1002955	chr2:133440142-133743211	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133441200-133454800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:133441600-133462600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:133448600-133477000	Weak transcription	Fetal Stomach	stomach
4	chr2:133450800-133454400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:133451000-133455000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:133451000-133455200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:133451200-133459200	Weak transcription	Osteobl	bone
8	chr2:133451200-133459400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:133451600-133455000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:133452400-133452800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr2:133452400-133453200	Enhancers	H1 Cell Line	embryonic stem cell

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