Variant report

Variant	rs2192690
Chromosome Location	chr2:58470342-58470343
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:58468655..58470586-chr2:58617618..58620030,2	K562	blood:
2	chr2:58454709..58457250-chr2:58468268..58470995,2	K562	blood:
3	chr2:58469020..58471826-chr2:58494493..58498239,3	K562	blood:
4	chr2:58373370..58376170-chr2:58468989..58470731,2	K562	blood:
5	chr2:58468761..58471826-chr2:58495168..58498239,4	K562	blood:

Variant related genes	Relation type
ENSG00000115392	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11125742	0.87[CEU][hapmap];0.93[TSI][hapmap]
rs11125745	0.93[CEU][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11889211	0.93[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12469873	0.91[AMR][1000 genomes]
rs12475594	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs13422644	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17049378	0.87[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap]
rs17049429	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3771215	0.87[CEU][hapmap]
rs3771220	0.82[YRI][hapmap]
rs4395240	0.93[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56705143	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56730649	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6725148	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6732505	0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6735296	0.94[ASW][hapmap];0.93[CEU][hapmap];0.90[CHB][hapmap];0.85[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72810360	0.91[AMR][1000 genomes]
rs72810373	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72812357	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7594702	0.81[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.82[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	nsv999042	chr2:58326123-58530903	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv535734	chr2:58326123-58530903	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1007527	chr2:58386271-58477536	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv535735	chr2:58386271-58477536	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2192690	PUS10	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58468600-58471200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:58469000-58470400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:58469000-58470800	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr2:58469800-58470400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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