Variant report

Variant	rs12474261
Chromosome Location	chr2:134467013-134467014
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:134463917..134465687-chr2:134466589..134468202,2	K562	blood:
2	chr2:134466669..134468289-chr2:134473564..134475862,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1110673	0.81[ASN][1000 genomes]
rs12472557	0.81[ASN][1000 genomes]
rs1348838	0.83[ASN][1000 genomes]
rs1901436	0.83[AMR][1000 genomes]
rs1901437	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs1901439	0.82[AMR][1000 genomes]
rs1901444	0.94[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1993135	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs2321203	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2321298	0.85[ASN][1000 genomes]
rs2321301	0.81[ASN][1000 genomes]
rs3936142	0.95[ASN][1000 genomes]
rs4270397	0.90[ASN][1000 genomes]
rs4343520	0.90[ASN][1000 genomes]
rs4467329	0.95[ASN][1000 genomes]
rs4505578	0.80[ASN][1000 genomes]
rs4547575	0.95[ASN][1000 genomes]
rs4549152	0.91[ASN][1000 genomes]
rs4553871	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4558640	0.95[ASN][1000 genomes]
rs4560170	0.95[ASN][1000 genomes]
rs6414015	0.83[ASN][1000 genomes]
rs6430443	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6430446	0.94[ASN][1000 genomes]
rs6430447	0.92[ASN][1000 genomes]
rs6715016	0.80[ASN][1000 genomes]
rs6726492	0.90[ASN][1000 genomes]
rs6738353	0.83[ASN][1000 genomes]
rs6743076	0.92[ASN][1000 genomes]
rs6752406	0.92[ASN][1000 genomes]
rs749825	0.81[ASN][1000 genomes]
rs7558993	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7580128	0.88[ASN][1000 genomes]
rs7586665	0.81[ASN][1000 genomes]
rs7595524	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7605721	0.89[ASN][1000 genomes]
rs9283451	0.95[ASN][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	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1006101	chr2:134263288-134973917	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1013713	chr2:134322236-134644574	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv535931	chr2:134322236-134644574	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12474261	UBXN4	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134466800-134467200	ZNF genes & repeats	Brain Angular Gyrus	brain
2	chr2:134466800-134467400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:134467000-134467200	ZNF genes & repeats	Aorta	Aorta
4	chr2:134467000-134472400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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