Variant report

Variant	rs62521819
Chromosome Location	chr8:124181836-124181837
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124178462..124182512-chr8:124193560..124196504,6	K562	blood:
2	chr8:124178849..124184750-chr8:124201276..124205206,6	K562	blood:
3	chr8:124179501..124182896-chr8:124406235..124411138,4	K562	blood:
4	chr8:124175599..124182947-chr8:124187251..124193031,13	K562	blood:

Variant related genes	Relation type
ENSG00000156802	Chromatin interaction
ENSG00000253410	Chromatin interaction
ENSG00000147689	Chromatin interaction
ENSG00000253258	Chromatin interaction
ENSG00000221461	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10096018	0.98[ASN][1000 genomes]
rs11780863	0.85[ASN][1000 genomes]
rs1563015	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1563016	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1563017	0.84[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1670173	0.91[ASN][1000 genomes]
rs1670174	0.82[ASN][1000 genomes]
rs1670178	0.99[ASN][1000 genomes]
rs1670182	0.86[ASN][1000 genomes]
rs1713738	0.99[ASN][1000 genomes]
rs17322971	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17323019	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17375962	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17376270	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17376305	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2385072	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28616192	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3107193	0.99[ASN][1000 genomes]
rs3107194	0.98[ASN][1000 genomes]
rs3739291	0.87[ASN][1000 genomes]
rs4300008	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55633424	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55720148	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56069069	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62521817	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62521818	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62521820	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62521821	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62521822	0.98[ASN][1000 genomes]
rs62521823	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6987091	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6987128	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6987216	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7001536	0.88[ASN][1000 genomes]
rs7008277	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7011195	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7011341	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7822076	0.98[ASN][1000 genomes]
rs7831175	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9643179	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[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	nsv1032827	chr8:123668081-124270400	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1015249	chr8:124103504-124373949	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv539741	chr8:124103504-124373949	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124178800-124182200	Weak transcription	Fetal Heart	heart
2	chr8:124178800-124194000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr8:124179800-124186000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:124180200-124185200	Weak transcription	A549	lung
5	chr8:124180800-124185800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:124181000-124186400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:124181000-124186400	Weak transcription	HMEC	breast
8	chr8:124181200-124186400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr8:124181400-124183200	Weak transcription	HepG2	liver
10	chr8:124181400-124186000	Weak transcription	Esophagus	oesophagus
11	chr8:124181400-124188600	Enhancers	K562	blood
12	chr8:124181800-124184600	Weak transcription	Hela-S3	cervix

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