Variant report

Variant	rs34806493
Chromosome Location	chr11:74791304-74791305
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	chr11:74790381-74798090	K562	blood:	n/a	n/a

Variant related genes	Relation type
NPM1P50	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10899068	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11236316	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236317	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236323	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11236325	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1893839	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2187435	0.82[ASN][1000 genomes]
rs2712781	0.94[ASN][1000 genomes]
rs2712787	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2712789	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2712790	0.91[ASN][1000 genomes]
rs2712792	0.81[ASN][1000 genomes]
rs2712796	0.80[ASN][1000 genomes]
rs2712805	0.82[ASN][1000 genomes]
rs2712807	0.82[ASN][1000 genomes]
rs2851064	0.82[ASN][1000 genomes]
rs2851066	0.80[ASN][1000 genomes]
rs2851085	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2851094	0.93[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2851096	0.91[ASN][1000 genomes]
rs2851102	0.86[ASN][1000 genomes]
rs2851108	0.85[ASN][1000 genomes]
rs3017932	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3018832	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4146884	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7112183	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7122948	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs753171	0.91[ASN][1000 genomes]
rs949072	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9634028	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	nsv897918	chr11:74757641-74798928	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	esv3478707	chr11:74782633-74842791	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
3	esv3478718	chr11:74782633-74842791	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
4	nsv975203	chr11:74786322-74799744	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34806493	XRRA1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74788600-74794000	Weak transcription	K562	blood
2	chr11:74789000-74793800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:74790600-74793600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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