Variant report

Variant	rs827022
Chromosome Location	chr4:8341821-8341822
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:8337029..8339751-chr4:8340402..8342759,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11726498	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11730196	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12500987	0.83[ASN][1000 genomes]
rs12501630	0.83[ASN][1000 genomes]
rs12502535	0.83[ASN][1000 genomes]
rs12511540	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13111624	0.81[ASN][1000 genomes]
rs13114241	0.83[ASN][1000 genomes]
rs13115325	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13142816	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1474314	0.83[ASN][1000 genomes]
rs1548214	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1678312	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2046027	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2046028	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35432937	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3947755	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4413391	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6830628	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs754740	0.84[ASN][1000 genomes]
rs827020	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9986018	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv878595	chr4:8154534-8390646	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv878601	chr4:8214767-8440951	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv878602	chr4:8214767-8448992	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1009011	chr4:8225669-8424831	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv470013	chr4:8315938-8377058	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv878605	chr4:8332057-8378959	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs827022	ACOX3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8333400-8342400	Weak transcription	Psoas Muscle	Psoas
2	chr4:8333400-8342400	Weak transcription	Right Atrium	heart
3	chr4:8337200-8342400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:8337200-8343200	Weak transcription	Fetal Kidney	kidney
5	chr4:8337400-8343200	Weak transcription	Right Ventricle	heart
6	chr4:8337400-8344400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:8338200-8344800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr4:8338800-8342600	Weak transcription	HSMM	muscle
9	chr4:8339000-8342400	Weak transcription	K562	blood
10	chr4:8339000-8342600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:8340600-8342200	Weak transcription	Fetal Heart	heart
12	chr4:8340600-8342400	Weak transcription	HMEC	breast
13	chr4:8341800-8343800	Enhancers	Adipose Nuclei	Adipose
14	chr4:8341800-8346000	Enhancers	Fetal Muscle Trunk	muscle
15	chr4:8341800-8346000	Enhancers	Fetal Stomach	stomach
16	chr4:8341800-8346400	Enhancers	Ovary	ovary

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