Variant report

Variant	rs12690514
Chromosome Location	chr2:182253024-182253025
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10171848	0.83[AFR][1000 genomes]
rs10194325	0.85[AFR][1000 genomes]
rs10211229	0.86[AFR][1000 genomes]
rs12690515	0.93[AFR][1000 genomes]
rs12693275	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12693276	0.83[AFR][1000 genomes]
rs12693277	0.82[AFR][1000 genomes]
rs13027531	0.85[AFR][1000 genomes]
rs13339780	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13339814	0.85[AFR][1000 genomes]
rs13390938	0.82[AFR][1000 genomes]
rs13399741	0.84[AFR][1000 genomes]
rs13425544	0.84[AFR][1000 genomes]
rs1371620	0.83[AFR][1000 genomes]
rs1440047	0.82[AFR][1000 genomes]
rs16867423	0.84[AFR][1000 genomes]
rs2056042	0.81[AFR][1000 genomes]
rs28853982	0.82[AFR][1000 genomes]
rs34041332	0.83[AFR][1000 genomes]
rs62191362	0.82[AFR][1000 genomes]
rs6433912	0.80[AFR][1000 genomes]
rs6433913	0.81[AFR][1000 genomes]
rs6433914	0.86[AFR][1000 genomes]
rs6433915	0.90[AFR][1000 genomes]
rs6433916	0.84[AFR][1000 genomes]
rs6433917	0.83[AFR][1000 genomes]
rs6433918	0.83[AFR][1000 genomes]
rs6433919	0.83[AFR][1000 genomes]
rs67712940	0.84[AFR][1000 genomes]
rs7355339	0.83[AFR][1000 genomes]
rs7355340	0.83[AFR][1000 genomes]
rs7355497	0.84[AFR][1000 genomes]
rs7577055	0.83[AFR][1000 genomes]
rs7591525	0.84[AFR][1000 genomes]
rs7596554	0.85[AFR][1000 genomes]
rs7602460	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7602799	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7603695	0.84[AFR][1000 genomes]
rs959633	0.80[AFR][1000 genomes]
rs974331	0.83[AFR][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	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1002647	chr2:182078521-182392273	Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv536064	chr2:182078521-182392273	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv834476	chr2:182179249-182360259	Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182238000-182258200	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr2:182240000-182257400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:182241600-182258200	Weak transcription	Fetal Thymus	thymus

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