Variant report

Variant	rs13248717
Chromosome Location	chr8:111564307-111564308
allele	C/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	TCF7L2	chr8:111563797-111564332	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:111563289..111565363-chr8:111579783..111581298,2	MCF-7	breast:
2	chr8:111563681..111564416-chr8:111663211..111663982,2	MCF-7	breast:
3	chr15:38663825..38666657-chr8:111561522..111564455,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253107	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10089323	1.00[CHB][hapmap];0.85[CHD][hapmap];0.92[GIH][hapmap];0.86[JPT][hapmap]
rs10096014	0.84[ASN][1000 genomes]
rs10100041	0.82[ASN][1000 genomes]
rs12675948	0.84[ASN][1000 genomes]
rs12677768	0.82[ASN][1000 genomes]
rs13250438	0.93[ASN][1000 genomes]
rs13268467	0.95[ASN][1000 genomes]
rs1353211	0.80[ASN][1000 genomes]
rs1494233	0.84[ASN][1000 genomes]
rs1494242	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs16880831	0.95[ASN][1000 genomes]
rs16880919	1.00[CHB][hapmap];0.85[CHD][hapmap];0.86[JPT][hapmap]
rs17392088	0.82[ASN][1000 genomes]
rs36043959	0.86[ASN][1000 genomes]
rs4386954	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4424233	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4439100	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4599784	0.98[ASN][1000 genomes]
rs4602862	0.84[ASN][1000 genomes]
rs4637794	0.83[ASN][1000 genomes]
rs62526783	0.84[ASN][1000 genomes]
rs6469313	0.84[ASN][1000 genomes]
rs6469314	0.84[ASN][1000 genomes]
rs6469317	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs6985117	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7007361	1.00[CHB][hapmap];0.85[CHD][hapmap];0.86[JPT][hapmap]
rs7460087	0.82[ASN][1000 genomes]
rs7825323	0.84[ASN][1000 genomes]
rs9297434	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9297435	1.00[CEU][hapmap];0.92[CHB][hapmap];0.82[JPT][hapmap];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9297436	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024499	chr8:111190482-111691474	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv539717	chr8:111190482-111691474	ZNF genes & repeats Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv611882	chr8:111342240-111722469	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1031119	chr8:111367939-111720763	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv891291	chr8:111462136-111681660	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv891292	chr8:111478321-111673039	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv2761460	chr8:111506457-111607147	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13248717	KIAA0753	trans	brain	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:111563400-111564600	Enhancers	HMEC	breast
2	chr8:111563800-111564600	Enhancers	Placenta Amnion	Placenta Amnion
3	chr8:111564000-111564600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:111564200-111564600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr8:111564200-111564600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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