Variant report

Variant	rs57989144
Chromosome Location	chr3:23590180-23590181
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11914576	0.91[AFR][1000 genomes]
rs11919065	0.91[AFR][1000 genomes]
rs11926217	0.95[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs11926646	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12486880	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12637722	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1463836	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17013457	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1874913	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35169377	0.95[ASN][1000 genomes]
rs4399836	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4642064	0.80[AFR][1000 genomes]
rs55666330	0.93[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs55732421	0.81[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs55779138	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55894729	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs56132801	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56667039	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56964757	0.92[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs59580282	0.91[AFR][1000 genomes]
rs60221455	0.92[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs60759404	0.91[AFR][1000 genomes]
rs61363919	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6550765	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66900833	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6775891	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6775907	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6781388	0.96[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs6782079	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6799118	0.91[AFR][1000 genomes]
rs6799234	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6800822	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6801946	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6802488	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6804201	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73043687	0.89[AFR][1000 genomes]
rs73045615	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs73045617	0.97[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs73045660	0.82[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs73049414	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7609845	0.95[ASN][1000 genomes]
rs7624174	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7628135	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7628949	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7631705	0.94[AFR][1000 genomes]
rs7632814	0.83[AFR][1000 genomes]
rs9835324	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9854488	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9873979	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[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	nsv1002823	chr3:23277838-23623083	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1007373	chr3:23367952-23710331	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv533980	chr3:23445901-24311972	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23550800-23598600	Weak transcription	HSMMtube	muscle
2	chr3:23571200-23591600	Weak transcription	GM12878-XiMat	blood
3	chr3:23571400-23598800	Weak transcription	Adipose Nuclei	Adipose
4	chr3:23583400-23615200	Weak transcription	Primary B cells from cord blood	blood
5	chr3:23585600-23609400	Weak transcription	Fetal Muscle Leg	muscle
6	chr3:23587200-23591400	Weak transcription	Thymus	Thymus
7	chr3:23587800-23590400	Weak transcription	A549	lung
8	chr3:23588600-23591200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr3:23589000-23590200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:23589000-23590600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr3:23589400-23590400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr3:23589400-23591000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr3:23589400-23592200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:23589600-23590200	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr3:23589600-23591600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr3:23589600-23591600	Enhancers	HMEC	breast
17	chr3:23589800-23590600	Enhancers	Psoas Muscle	Psoas
18	chr3:23589800-23591400	Enhancers	NHEK	skin
19	chr3:23590000-23591400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr3:23590000-23591600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr3:23590000-23608200	Weak transcription	Aorta	Aorta

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