Variant report

Variant	rs10048838
Chromosome Location	chr2:73368674-73368675
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:73365701..73368698-chr2:73372259..73375137,2	K562	blood:
2	chr2:73368568..73371977-chr2:73372408..73374837,3	K562	blood:
3	chr2:73338730..73340729-chr2:73368041..73370923,2	K562	blood:

Variant related genes	Relation type
ENSG00000272702	Chromatin interaction
ENSG00000135631	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10048666	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10048720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10048837	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10175626	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10189022	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10193579	0.80[EUR][1000 genomes]
rs10195007	0.89[ASN][1000 genomes]
rs10195282	0.89[ASN][1000 genomes]
rs10198711	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11884073	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11888772	0.89[ASN][1000 genomes]
rs11893547	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11902788	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13009208	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13385938	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13386236	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13404992	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13409784	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13415504	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13423796	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13424035	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17008829	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17008862	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17008864	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2043092	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2288632	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28464603	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28494567	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3768636	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3820701	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs546576	1.00[JPT][hapmap]
rs57321619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60913601	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61534579	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6757079	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72903461	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7594590	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006801	chr2:73305056-73431711	Weak transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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