Variant report

Variant	rs12907065
Chromosome Location	chr15:79107355-79107356
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	REST	chr15:79107283-79107445	Hela-S3	cervix:	n/a	chr15:79107384-79107404 chr15:79107390-79107404 chr15:79107384-79107404

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:79105247..79107755-chr15:79157087..79159923,2	MCF-7	breast:

Variant related genes	Relation type
ADAMTS7	TF binding region

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10083696	0.90[EUR][1000 genomes]
rs10083697	0.91[EUR][1000 genomes]
rs11072807	0.91[EUR][1000 genomes]
rs11631955	0.92[ASN][1000 genomes]
rs11632102	0.92[ASN][1000 genomes]
rs11638020	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11639044	0.92[ASN][1000 genomes]
rs11856953	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12442476	0.90[EUR][1000 genomes]
rs12898292	0.89[EUR][1000 genomes]
rs12898392	0.88[EUR][1000 genomes]
rs12898452	0.89[EUR][1000 genomes]
rs12898578	0.83[EUR][1000 genomes]
rs12898712	0.89[EUR][1000 genomes]
rs12899452	0.83[EUR][1000 genomes]
rs12909317	0.91[EUR][1000 genomes]
rs12915192	0.82[EUR][1000 genomes]
rs28513584	0.89[EUR][1000 genomes]
rs34372090	0.91[EUR][1000 genomes]
rs3890715	0.91[EUR][1000 genomes]
rs3971829	0.90[EUR][1000 genomes]
rs4073322	0.91[EUR][1000 genomes]
rs4380028	0.91[EUR][1000 genomes]
rs4387568	0.90[EUR][1000 genomes]
rs4389112	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4389113	0.91[EUR][1000 genomes]
rs4433781	0.91[EUR][1000 genomes]
rs4887113	0.92[ASN][1000 genomes]
rs55870734	0.90[EUR][1000 genomes]
rs56076311	0.88[EUR][1000 genomes]
rs56227704	0.85[ASN][1000 genomes]
rs56683682	0.91[EUR][1000 genomes]
rs58021857	0.91[EUR][1000 genomes]
rs61043060	0.90[EUR][1000 genomes]
rs62011002	0.91[EUR][1000 genomes]
rs6495333	0.91[EUR][1000 genomes]
rs6495335	0.90[EUR][1000 genomes]
rs66813213	0.89[EUR][1000 genomes]
rs66925868	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67745769	0.90[EUR][1000 genomes]
rs7165075	0.89[EUR][1000 genomes]
rs7165902	0.89[EUR][1000 genomes]
rs7167056	0.84[EUR][1000 genomes]
rs7167242	0.82[EUR][1000 genomes]
rs7167853	0.88[EUR][1000 genomes]
rs7176187	0.91[EUR][1000 genomes]
rs7178051	0.90[EUR][1000 genomes]
rs72749206	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7403593	0.91[EUR][1000 genomes]
rs7403608	0.89[EUR][1000 genomes]
rs7403708	0.91[EUR][1000 genomes]
rs7403714	0.91[EUR][1000 genomes]
rs7403728	0.91[EUR][1000 genomes]
rs8026598	0.90[EUR][1000 genomes]
rs8027833	0.91[EUR][1000 genomes]
rs8035093	0.91[EUR][1000 genomes]
rs8041064	0.90[EUR][1000 genomes]
rs8041389	0.82[EUR][1000 genomes]
rs9806363	0.91[EUR][1000 genomes]
rs9920493	0.91[EUR][1000 genomes]
rs9920968	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917303	chr15:78491050-79205255	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
2	nsv904431	chr15:79006442-79155088	Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv33573	chr15:79053484-79293881	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv904432	chr15:79066932-79175813	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12907065	CTSH	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:79104800-79117800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr15:79104800-79117800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr15:79105000-79108400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr15:79105000-79110800	Weak transcription	Right Atrium	heart
5	chr15:79105000-79117800	Weak transcription	HSMMtube	muscle
6	chr15:79105000-79118000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr15:79105200-79110200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr15:79105200-79118000	Weak transcription	Right Ventricle	heart
9	chr15:79107000-79107400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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