Variant report

Variant	rs8035510
Chromosome Location	chr15:75619623-75619624
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	chr15:75619500-75619650	HPF	lung:	n/a	chr15:75619558-75619568
2	CTCF	chr15:75619540-75619690	HPF	lung:	n/a	chr15:75619558-75619568
3	CTCF	chr15:75619480-75619630	MCF-7	breast:	n/a	chr15:75619558-75619568
4	CTCF	chr15:75619520-75619670	HA-sp	spinal cord:	n/a	chr15:75619558-75619568
5	CTCF	chr15:75619480-75619630	HL-60	blood:	n/a	chr15:75619558-75619568
6	CTCF	chr15:75619480-75619630	AG04449	skin:	n/a	chr15:75619558-75619568
7	CTCF	chr15:75619500-75619650	HEEpiC	esophagus:	n/a	chr15:75619558-75619568
8	CTCF	chr15:75619480-75619630	GM12873	blood:	n/a	chr15:75619558-75619568
9	CTCF	chr15:75619480-75619630	HMF	breast:	n/a	chr15:75619558-75619568
10	CTCF	chr15:75619500-75619650	GM06990	blood:	n/a	chr15:75619558-75619568
11	CTCF	chr15:75619600-75619750	RPTEC	kidney:	n/a	n/a
12	CTCF	chr15:75619500-75619650	GM12871	blood:	n/a	chr15:75619558-75619568
13	CTCF	chr15:75619480-75619630	GM12866	blood:	n/a	chr15:75619558-75619568
14	CTCF	chr15:75619370-75619696	H1-hESC	embryonic stem cell:	n/a	chr15:75619558-75619568
15	CTCF	chr15:75619480-75619630	HEK293	kidney:	n/a	chr15:75619558-75619568
16	CTCF	chr15:75619480-75619630	HUVEC	blood vessel:	n/a	chr15:75619558-75619568

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:75614370..75615886-chr15:75619188..75620817,2	MCF-7	breast:
2	chr15:75614033..75615886-chr15:75617581..75620127,2	K562	blood:

Variant related genes	Relation type
ANP32BP1	TF binding region
ENSG00000259790	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12591076	1.00[EUR][1000 genomes]
rs12591309	1.00[EUR][1000 genomes]
rs12591954	1.00[EUR][1000 genomes]
rs12592026	1.00[EUR][1000 genomes]
rs12592505	1.00[EUR][1000 genomes]
rs12593372	1.00[EUR][1000 genomes]
rs12593870	1.00[EUR][1000 genomes]
rs12594671	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2451775	0.83[AFR][1000 genomes]
rs28372857	1.00[EUR][1000 genomes]
rs4433783	0.86[AFR][1000 genomes]
rs4886434	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4886435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4886445	1.00[EUR][1000 genomes]
rs4886685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4886686	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs4886689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4886697	1.00[EUR][1000 genomes]
rs4886701	1.00[EUR][1000 genomes]
rs8032031	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8035796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9788768	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039713	chr15:75394213-75674389	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv1037713	chr15:75401213-75665304	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	nsv482859	chr15:75493899-75688451	Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
4	nsv1035829	chr15:75504534-75692417	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv977736	chr15:75509295-75632679	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv531901	chr15:75600108-76019966	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75618000-75628000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:75619600-75627600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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