Variant report

Variant	rs13109146
Chromosome Location	chr4:74643941-74643942
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:74643920-74644070	HCPEpiC	choroid plexus:	n/a	n/a

Variant related genes	Relation type
ENSG00000249051	TF binding region

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10005565	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10009462	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10009488	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10010970	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10012962	0.83[EUR][1000 genomes]
rs10015626	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10019318	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10938094	0.83[EUR][1000 genomes]
rs10938095	0.83[EUR][1000 genomes]
rs10938096	0.82[EUR][1000 genomes]
rs10938097	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10938100	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11730284	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11730667	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11733222	0.81[EUR][1000 genomes]
rs11938389	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12503139	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12644561	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13106097	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13109377	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13112910	0.83[ASN][1000 genomes]
rs13116536	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13117876	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13138675	0.95[EUR][1000 genomes]
rs13151869	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16849928	0.84[ASN][1000 genomes]
rs16849958	0.85[ASN][1000 genomes]
rs1951235	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1951236	0.85[ASN][1000 genomes]
rs1951240	0.85[ASN][1000 genomes]
rs1951242	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1957070	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2145617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2224434	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2227307	0.83[ASN][1000 genomes]
rs2227521	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2367276	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28609798	0.83[EUR][1000 genomes]
rs28833215	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2886920	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2886922	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4073	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4279174	0.83[EUR][1000 genomes]
rs4549349	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4694178	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4694636	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4694637	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4694639	0.81[ASN][1000 genomes]
rs6446959	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6446960	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6446961	0.82[EUR][1000 genomes]
rs6820848	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6831029	0.82[EUR][1000 genomes]
rs6853679	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs724398	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7669281	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7689435	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9999262	0.83[EUR][1000 genomes]
rs9999446	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[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	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1005231	chr4:74555497-74680079	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74637200-74646400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr4:74640600-74644000	Enhancers	HUVEC	blood vessel
3	chr4:74640600-74644200	Enhancers	Muscle Satellite Cultured Cells	--
4	chr4:74641200-74644000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:74641200-74644200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:74643200-74644000	Enhancers	NHDF-Ad	bronchial
7	chr4:74643400-74644000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:74643800-74644000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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