Variant report

Variant	rs12107010
Chromosome Location	chr3:142818757-142818758
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:142815403..142818636-chr3:142818743..142822345,3	K562	blood:
2	chr3:142814752..142820591-chr3:142836443..142840865,5	K562	blood:
3	chr3:142816543..142819154-chr3:142830617..142832847,2	K562	blood:

Variant related genes	Relation type
ENSG00000175040	Chromatin interaction
ENSG00000243733	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs13321817	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13322379	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13322528	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13325630	0.87[ASN][1000 genomes]
rs16852899	0.87[ASN][1000 genomes]
rs3821646	0.87[ASN][1000 genomes]
rs58531834	0.87[ASN][1000 genomes]
rs59540153	0.87[ASN][1000 genomes]
rs6764683	0.87[EUR][1000 genomes]
rs6771415	0.87[ASN][1000 genomes]
rs6797880	0.87[ASN][1000 genomes]
rs6805721	0.87[ASN][1000 genomes]
rs6806835	0.87[ASN][1000 genomes]
rs72990813	0.87[ASN][1000 genomes]
rs72992541	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72992555	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9289653	0.87[ASN][1000 genomes]
rs9808897	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9808965	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9820824	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9839114	0.87[ASN][1000 genomes]
rs9842812	0.87[ASN][1000 genomes]
rs9868064	0.87[ASN][1000 genomes]
rs9871843	0.87[ASN][1000 genomes]
rs9876889	0.87[ASN][1000 genomes]
rs9877143	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9881229	1.00[ASN][1000 genomes]
rs9881390	0.87[ASN][1000 genomes]
rs9882184	0.87[ASN][1000 genomes]
rs9883936	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9990198	0.87[ASN][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	nsv877562	chr3:142573789-142846370	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	esv2757893	chr3:142720230-142962932	Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2759183	chr3:142720230-142964373	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv591921	chr3:142762487-142841740	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142817800-142819600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr3:142818000-142819600	Enhancers	Fetal Muscle Leg	muscle

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