Variant report

Variant	rs4580824
Chromosome Location	chr6:80120201-80120202
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	chr6:80115909..80117947-chr6:80119723..80121320,2	K562	blood:
2	chr6:80120082..80122364-chr6:80124010..80126618,2	K562	blood:

Variant related genes	Relation type
ENSG00000262048	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10484943	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1385530	0.98[ASN][1000 genomes]
rs16890623	0.85[ASN][1000 genomes]
rs16890716	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16890720	0.98[ASN][1000 genomes]
rs174525	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17726405	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs17726513	0.84[ASN][1000 genomes]
rs17743065	0.98[ASN][1000 genomes]
rs17743190	0.98[ASN][1000 genomes]
rs17799408	0.94[ASN][1000 genomes]
rs17799462	0.98[ASN][1000 genomes]
rs17799708	0.98[ASN][1000 genomes]
rs17799762	0.98[ASN][1000 genomes]
rs17799805	0.98[ASN][1000 genomes]
rs17800074	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs196667	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs196670	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3846735	0.98[ASN][1000 genomes]
rs3857449	0.98[ASN][1000 genomes]
rs3857450	0.98[ASN][1000 genomes]
rs3857451	0.98[ASN][1000 genomes]
rs3857453	0.98[ASN][1000 genomes]
rs3857454	0.98[ASN][1000 genomes]
rs3907327	0.98[ASN][1000 genomes]
rs3907328	0.98[ASN][1000 genomes]
rs3907329	0.98[ASN][1000 genomes]
rs4092965	0.94[ASN][1000 genomes]
rs4364439	0.98[ASN][1000 genomes]
rs55715962	0.98[ASN][1000 genomes]
rs55805600	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55989328	0.94[ASN][1000 genomes]
rs56226127	0.98[ASN][1000 genomes]
rs56277073	0.98[ASN][1000 genomes]
rs62411314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62411317	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6925847	1.00[ASN][1000 genomes]
rs6939506	0.98[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	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv886301	chr6:80111104-80339088	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv886302	chr6:80111104-80355973	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1030126	chr6:80113449-80209165	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1027388	chr6:80113449-80355973	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4580824	IMPG1	cis	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80109600-80121200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:80113400-80122800	Weak transcription	Fetal Lung	lung
3	chr6:80116200-80131600	Weak transcription	Fetal Intestine Small	intestine
4	chr6:80119600-80121600	Enhancers	Brain Substantia Nigra	brain
5	chr6:80120000-80121800	Enhancers	Brain Hippocampus Middle	brain

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