Variant report

Variant	rs10875906
Chromosome Location	chr12:49385679-49385680
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	ZNF384	chr12:49385354-49385683	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:49377409..49379238-chr12:49384626..49386937,2	K562	blood:
2	chr12:49383198..49385944-chr12:49387960..49391003,3	K562	blood:
3	chr12:49376183..49378909-chr12:49384473..49386126,2	K562	blood:

Variant related genes	Relation type
ENSG00000258283	TF binding region
ENSG00000258283	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1054442	0.97[ASN][1000 genomes]
rs10783299	0.96[ASN][1000 genomes]
rs10783300	0.94[ASN][1000 genomes]
rs10783301	0.83[ASN][1000 genomes]
rs10875908	0.94[ASN][1000 genomes]
rs10875910	0.94[ASN][1000 genomes]
rs10875911	0.94[ASN][1000 genomes]
rs10875912	0.91[ASN][1000 genomes]
rs10875913	0.91[ASN][1000 genomes]
rs10875914	0.90[ASN][1000 genomes]
rs10875915	0.89[ASN][1000 genomes]
rs11168822	0.92[ASN][1000 genomes]
rs11168827	0.89[ASN][1000 genomes]
rs1138908	0.94[ASN][1000 genomes]
rs11614738	0.89[ASN][1000 genomes]
rs2117029	0.94[ASN][1000 genomes]
rs2293445	0.94[ASN][1000 genomes]
rs2293446	0.93[ASN][1000 genomes]
rs2304275	0.81[ASN][1000 genomes]
rs34436857	0.84[ASN][1000 genomes]
rs3741619	0.99[ASN][1000 genomes]
rs3741622	0.83[ASN][1000 genomes]
rs3782357	0.89[ASN][1000 genomes]
rs876333	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832404	chr12:49258560-49458555	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
4	nsv558833	chr12:49358880-49478812	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
5	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49375400-49388400	Weak transcription	Right Atrium	heart
2	chr12:49385400-49387400	Weak transcription	A549	lung
3	chr12:49385600-49386200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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