Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:151156231..151158175-chr3:151161279..151163172,2	K562	blood:
2	chr3:151154108..151155613-chr3:151160574..151163493,2	K562	blood:

Variant related genes	Relation type
ENSG00000152580	Chromatin interaction

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs13088575	0.82[EUR][1000 genomes]
rs2172248	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4234322	0.84[ASN][1000 genomes]
rs4435614	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4680440	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4680442	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4680443	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6769246	0.82[EUR][1000 genomes]
rs6798252	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7610769	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7619322	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7621591	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9289838	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9812989	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9817904	0.83[ASN][1000 genomes]
rs9824609	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9843590	0.83[ASN][1000 genomes]
rs9863400	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9871952	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9873499	0.83[EUR][1000 genomes]
rs9877298	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829757	chr3:151044880-151226442	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1000355	chr3:151108859-151243835	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv995048	chr3:151114074-151560019	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv877649	chr3:151147968-151236562	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:151129400-151162800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr3:151148800-151162400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr3:151153400-151162600	Weak transcription	Osteobl	bone
4	chr3:151155000-151162800	Weak transcription	NHLF	lung
5	chr3:151156000-151163200	Weak transcription	Fetal Brain Male	brain
6	chr3:151157600-151162600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr3:151157800-151162800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr3:151160400-151162800	Weak transcription	Adipose Nuclei	Adipose
9	chr3:151161600-151163000	Weak transcription	Fetal Lung	lung
10	chr3:151161600-151163200	Weak transcription	Aorta	Aorta
11	chr3:151161600-151166200	Weak transcription	Ovary	ovary
12	chr3:151161600-151178600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr3:151161800-151163600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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