Variant report

Variant	rs12022930
Chromosome Location	chr1:221140832-221140833
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:221051784..221054562-chr1:221138857..221141860,3	K562	blood:

Variant related genes	Relation type
ENSG00000257551	Chromatin interaction
ENSG00000136630	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10495159	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10779417	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10779418	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10863573	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11118632	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12140805	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1335927	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1335929	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1414519	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1414520	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2484703	0.96[CEU][hapmap];0.82[CHB][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2484704	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2484706	0.89[EUR][1000 genomes]
rs2784276	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2784279	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2784280	0.89[EUR][1000 genomes]
rs2784281	0.89[EUR][1000 genomes]
rs2807832	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2807875	0.89[EUR][1000 genomes]
rs2807876	0.89[EUR][1000 genomes]
rs2807877	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2807881	0.96[CEU][hapmap];0.83[CHB][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2992647	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2992649	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2992650	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3013553	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3013554	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3013556	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3013558	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6678632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv873199	chr1:221136672-221451217	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221139600-221141000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:221139600-221141200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:221139600-221141200	Enhancers	Osteobl	bone
4	chr1:221139800-221141000	Enhancers	NHDF-Ad	bronchial
5	chr1:221140200-221141000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:221140200-221141000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:221140200-221141200	Enhancers	Fetal Stomach	stomach
8	chr1:221140400-221141000	Flanking Active TSS	K562	blood
9	chr1:221140600-221141000	Enhancers	Left Ventricle	heart
10	chr1:221140600-221143400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr1:221140800-221143400	Weak transcription	NHLF	lung

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