Variant report

Variant	rs10748069
Chromosome Location	chr12:67527018-67527019
allele	A/C
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	chr12:67526463-67527104	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:67526991..67527959-chr12:67544505..67545139,2	MCF-7	breast:

Variant related genes	Relation type
RAB11AP2	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10748070	0.93[ASN][1000 genomes]
rs10748071	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[JPT][hapmap];0.93[ASN][1000 genomes]
rs10748072	0.93[ASN][1000 genomes]
rs10784606	0.81[CHD][hapmap]
rs10784611	1.00[CHB][hapmap];0.88[JPT][hapmap];0.93[ASN][1000 genomes]
rs10878569	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10878570	0.95[ASN][1000 genomes]
rs10878571	0.93[ASN][1000 genomes]
rs11176589	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11176591	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11176593	1.00[ASN][1000 genomes]
rs11176594	1.00[ASN][1000 genomes]
rs11176596	0.92[ASN][1000 genomes]
rs11176597	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11832135	0.92[ASN][1000 genomes]
rs1370408	0.93[ASN][1000 genomes]
rs1526832	0.93[ASN][1000 genomes]
rs1569021	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1866068	0.85[CHB][hapmap]
rs1918140	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2164746	0.85[CHB][hapmap]
rs4397936	0.85[CHB][hapmap]
rs4603385	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap]
rs4913317	1.00[ASN][1000 genomes]
rs4913533	0.85[CHB][hapmap]
rs7132460	0.95[ASN][1000 genomes]
rs7135360	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7299553	1.00[ASN][1000 genomes]
rs7300461	0.97[ASN][1000 genomes]
rs7300759	1.00[ASN][1000 genomes]
rs7485845	0.92[ASN][1000 genomes]
rs7958157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7969451	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[JPT][hapmap];0.93[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	nsv541524	chr12:67311057-67700349	Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10748069	SLC35E3	cis	cerebellum	SCAN
rs10748069	GRIP1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67527000-67528400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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