Variant report

Variant	rs10203280
Chromosome Location	chr2:56552703-56552704
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10172020	1.00[CEU][hapmap];0.88[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11125619	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11125620	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11125621	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11125622	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12233052	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12463587	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12465842	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13384655	0.82[CEU][hapmap]
rs13389344	0.85[CEU][hapmap]
rs1549031	0.85[CEU][hapmap]
rs17047781	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17047791	0.85[EUR][1000 genomes]
rs17047802	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs28456238	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28741029	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4141565	0.82[MEX][hapmap]
rs4671278	0.85[CEU][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.90[TSI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4672106	0.85[CEU][hapmap]
rs4672107	0.84[CEU][hapmap]
rs4672109	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes]
rs6732854	0.91[EUR][1000 genomes]
rs6748308	0.90[JPT][hapmap]
rs6760269	0.90[JPT][hapmap]
rs72803034	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7355411	0.85[CEU][hapmap];0.80[MEX][hapmap]
rs7566597	0.85[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530516	chr2:56447922-56633505	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv874170	chr2:56496589-56590865	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv834093	chr2:56538097-56708677	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1004449	chr2:56538460-56715861	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv874171	chr2:56545845-56727178	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv582032	chr2:56551074-56599354	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10203280	RPL23AP32	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56527600-56561000	Weak transcription	HSMM	muscle
2	chr2:56546200-56552800	Weak transcription	Left Ventricle	heart
3	chr2:56552600-56553000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:56552600-56553800	Enhancers	Colon Smooth Muscle	Colon
5	chr2:56552600-56555800	Enhancers	Fetal Heart	heart

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