Variant report

Variant	rs2424959
Chromosome Location	chr20:31693578-31693579
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1007285	0.83[ASN][1000 genomes]
rs11696307	0.83[ASN][1000 genomes]
rs11696310	0.83[ASN][1000 genomes]
rs11699009	0.83[ASN][1000 genomes]
rs11699448	0.90[ASN][1000 genomes]
rs12625298	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs13044428	0.82[ASN][1000 genomes]
rs1972199	0.82[ASN][1000 genomes]
rs2057261	0.83[ASN][1000 genomes]
rs2057262	0.83[ASN][1000 genomes]
rs2070321	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2070327	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2070328	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2073325	0.82[ASN][1000 genomes]
rs2424942	0.82[ASN][1000 genomes]
rs2424945	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2424946	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2424947	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2424953	0.83[ASN][1000 genomes]
rs2424955	0.90[ASN][1000 genomes]
rs2424956	0.90[ASN][1000 genomes]
rs2424957	0.90[ASN][1000 genomes]
rs2424958	0.90[ASN][1000 genomes]
rs2424960	0.86[ASN][1000 genomes]
rs2424961	0.90[ASN][1000 genomes]
rs2424962	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424963	0.90[ASN][1000 genomes]
rs2424964	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424965	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34388980	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34868076	0.89[ASN][1000 genomes]
rs35268814	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6059069	0.80[ASN][1000 genomes]
rs6059079	0.83[ASN][1000 genomes]
rs6088091	0.80[ASN][1000 genomes]
rs7273967	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs761931	0.83[ASN][1000 genomes]
rs761932	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8120668	1.00[JPT][hapmap]

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	nsv1056411	chr20:31057037-31942835	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	esv2758519	chr20:31495807-31748166	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv2758792	chr20:31495807-31748166	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:31691200-31699000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:31692000-31693600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr20:31692200-31693600	Enhancers	Right Atrium	heart
4	chr20:31692400-31694000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr20:31692600-31694000	Enhancers	Adipose Nuclei	Adipose
6	chr20:31693000-31693800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr20:31693000-31694000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr20:31693000-31695600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr20:31693400-31693600	Flanking Active TSS	Fetal Muscle Trunk	muscle
10	chr20:31693400-31693600	Enhancers	Fetal Muscle Leg	muscle
11	chr20:31693400-31693800	Flanking Bivalent TSS/Enh	HepG2	liver
12	chr20:31693400-31694200	Enhancers	Pancreas	Pancrea

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