Variant report

Variant	rs2342552
Chromosome Location	chr2:151941414-151941415
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10187570	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10198544	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10205429	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1074149	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12233107	0.84[LWK][hapmap];0.95[YRI][hapmap]
rs12465694	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12477672	0.81[AFR][1000 genomes]
rs13385131	0.80[ASW][hapmap];0.87[LWK][hapmap];0.95[YRI][hapmap]
rs13414651	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1601359	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17197926	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17197940	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1843269	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1905742	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2062363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2062364	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4374368	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56317281	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62169063	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62169068	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62169088	0.89[ASN][1000 genomes]
rs720066	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs749691	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7585884	0.82[AFR][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	nsv525350	chr2:151711700-152044794	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv523849	chr2:151718133-152143524	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv3693426	chr2:151725792-152295862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1002140	chr2:151833257-152054910	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151939400-151941600	Enhancers	Primary T cells from cord blood	blood
2	chr2:151939800-151941600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:151939800-151941600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr2:151939800-151941600	Enhancers	Fetal Brain Male	brain
5	chr2:151940000-151942400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:151940000-151942800	Enhancers	Fetal Stomach	stomach
7	chr2:151940200-151941800	Enhancers	Adipose Nuclei	Adipose
8	chr2:151940400-151941600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:151940400-151942200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:151940400-151942200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr2:151940400-151942400	Enhancers	Fetal Brain Female	brain
12	chr2:151940400-151942600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:151940400-151942600	Enhancers	NHDF-Ad	bronchial
14	chr2:151940800-151942600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:151941000-151941600	Enhancers	H1 Cell Line	embryonic stem cell
16	chr2:151941000-151943200	Enhancers	Fetal Lung	lung
17	chr2:151941200-151941600	Enhancers	Brain Cingulate Gyrus	brain
18	chr2:151941200-151942000	Enhancers	Primary T killer memory cells from peripheral blood	blood

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