Variant report

Variant	rs58579082
Chromosome Location	chr22:29006385-29006386
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29004756..29007074-chr22:29174850..29177158,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs12166363	0.86[AFR][1000 genomes]
rs12167667	0.92[AFR][1000 genomes]
rs12169595	0.89[AFR][1000 genomes]
rs16986509	0.89[AFR][1000 genomes]
rs17882995	1.00[EUR][1000 genomes]
rs57846969	1.00[EUR][1000 genomes]
rs59262169	0.80[AFR][1000 genomes]
rs59773331	1.00[EUR][1000 genomes]
rs60155737	1.00[EUR][1000 genomes]
rs60780652	1.00[EUR][1000 genomes]
rs61257487	1.00[EUR][1000 genomes]
rs6519753	0.89[AFR][1000 genomes]
rs7291268	0.89[AFR][1000 genomes]
rs73428078	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73430105	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73430123	0.89[AFR][1000 genomes]
rs73430136	0.86[AFR][1000 genomes]
rs73430155	0.89[AFR][1000 genomes]
rs73430163	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73430186	0.92[AFR][1000 genomes]
rs73430202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73881118	1.00[EUR][1000 genomes]
rs73882748	1.00[EUR][1000 genomes]
rs73882756	1.00[EUR][1000 genomes]
rs73882764	1.00[EUR][1000 genomes]
rs8137200	0.85[AFR][1000 genomes]
rs8139793	1.00[AMR][1000 genomes]
rs9306457	0.89[AFR][1000 genomes]
rs9620797	0.87[AFR][1000 genomes]
rs9620799	0.87[AFR][1000 genomes]
rs9620803	0.89[AFR][1000 genomes]
rs9620804	0.89[AFR][1000 genomes]
rs9625481	0.85[AFR][1000 genomes]
rs9625484	0.89[AFR][1000 genomes]
rs9625510	0.92[AFR][1000 genomes]
rs9625515	0.87[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	nsv1067544	chr22:28755418-29055246	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer 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 miRNA	4 gene(s)	inside rSNPs	diseases
2	nsv544674	chr22:28755418-29055246	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv916473	chr22:28837041-29215603	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv459867	chr22:28993183-29109036	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv588881	chr22:28993183-29109036	Weak transcription Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28991800-29007600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr22:29003000-29025600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:29004400-29041600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr22:29004800-29014600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr22:29004800-29016600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr22:29004800-29026000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr22:29004800-29027400	Weak transcription	Aorta	Aorta
8	chr22:29004800-29036000	Weak transcription	Fetal Muscle Leg	muscle
9	chr22:29005400-29008600	Weak transcription	Right Atrium	heart
10	chr22:29005800-29006400	ZNF genes & repeats	Fetal Stomach	stomach
11	chr22:29005800-29054000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr22:29006000-29006400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr22:29006000-29006400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr22:29006000-29006600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr22:29006000-29016400	Weak transcription	Fetal Lung	lung
16	chr22:29006200-29006400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr22:29006200-29006400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr22:29006200-29006400	Enhancers	Lung	lung
19	chr22:29006200-29006400	Flanking Active TSS	K562	blood
20	chr22:29006200-29013400	Weak transcription	Ovary	ovary

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