Variant report

Variant	rs1381915
Chromosome Location	chr4:22519313-22519314
allele	A/G
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	POLR2A	chr4:22515695-22520041	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr4:22515612-22519946	HepG2	liver:	n/a	n/a
3	POLR2A	chr4:22519225-22519397	MCF10A-Er-Src	breast:	n/a	n/a
4	MYC	chr4:22519174-22519351	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
GPR125	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11728370	0.86[CHB][hapmap]
rs12504167	0.87[ASN][1000 genomes]
rs13113896	0.86[CHB][hapmap];0.85[ASN][1000 genomes]
rs13115916	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13133913	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13135791	0.84[ASN][1000 genomes]
rs1462987	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1462988	0.82[CHB][hapmap]
rs16872759	0.85[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs1841822	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1841823	0.86[CHB][hapmap];0.81[CHD][hapmap]
rs2045817	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4495025	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4631026	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.95[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4697018	0.91[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs4697312	0.85[ASN][1000 genomes]
rs6818676	0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73114193	0.84[ASN][1000 genomes]
rs73114194	0.84[ASN][1000 genomes]
rs7670164	0.90[ASN][1000 genomes]
rs7692390	0.91[CHB][hapmap];0.93[CHD][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs7697048	0.91[CHB][hapmap];0.93[CHD][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs9992412	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3349061	chr4:22379581-22887563	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv821634	chr4:22427074-22865948	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22518000-22519600	Weak transcription	Small Intestine	intestine
2	chr4:22518600-22519800	Enhancers	Fetal Heart	heart
3	chr4:22518600-22523600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:22518800-22519800	Weak transcription	Psoas Muscle	Psoas
5	chr4:22518800-22520000	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr4:22518800-22523000	Weak transcription	HepG2	liver
7	chr4:22518800-22532600	Weak transcription	Fetal Lung	lung
8	chr4:22519000-22520800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr4:22519200-22521400	Weak transcription	Rectal Mucosa Donor 31	rectum

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