Variant report

Variant	rs66525381
Chromosome Location	chr1:93296764-93296765
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr1:93296739-93298602	K562	blood:	n/a	n/a
2	FOXA1	chr1:93296688-93297005	HepG2	liver:	n/a	chr1:93296864-93296876
3	RFX5	chr1:93296496-93297044	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:93220670..93222907-chr1:93296640..93299176,3	MCF-7	breast:
2	chr1:93296297..93299381-chr1:93425183..93428047,4	K562	blood:
3	chr1:93249660..93252667-chr1:93296431..93299077,5	K562	blood:
4	chr1:93296271..93298475-chr1:93543770..93546056,2	MCF-7	breast:
5	chr1:93296356..93298770-chr1:93426282..93429088,3	MCF-7	breast:
6	chr1:93249360..93255989-chr1:93295958..93302033,8	K562	blood:
7	chr1:93256221..93258760-chr1:93295783..93299962,5	K562	blood:
8	chr1:92764074..92765656-chr1:93296705..93299037,2	K562	blood:
9	chr1:92762794..92765730-chr1:93295925..93298205,3	K562	blood:
10	chr1:93296076..93299049-chr1:93541677..93546567,5	K562	blood:
11	chr1:93296314..93299115-chr1:93644282..93648010,4	K562	blood:
12	chr1:93296486..93299108-chr1:93543311..93545320,3	K562	blood:

No data

Variant related genes	Relation type
RPL5	TF binding region
ENSG00000154511	Chromatin interaction
ENSG00000067208	Chromatin interaction
ENSG00000174842	Chromatin interaction
ENSG00000122483	Chromatin interaction
ENSG00000223896	Chromatin interaction
ENSG00000122484	Chromatin interaction
ENSG00000117500	Chromatin interaction
ENSG00000143033	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10874745	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11164825	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11582791	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11586089	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11586570	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12062315	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12082659	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12726286	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12728322	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12738654	0.82[EUR][1000 genomes]
rs12746956	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12750269	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1854797	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2893226	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34041593	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34098754	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34168045	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34244251	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35031391	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35051335	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35183060	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58270016	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6604026	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6657809	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687931	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71652510	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7514280	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7521417	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7554594	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv530047	chr1:93273425-93308213	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv508393	chr1:93290513-93344924	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs66525381	FAM69A	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93289800-93297400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:93296400-93297000	Weak transcription	Stomach Mucosa	stomach
3	chr1:93296400-93297400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:93296600-93298000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:93296600-93298600	Bivalent/Poised TSS	HepG2	liver

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