Variant report

Variant	rs1423398
Chromosome Location	chr5:41124542-41124543
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	chr5:41119689..41123287-chr5:41124152..41126947,3	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10075985	0.93[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1097653	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1816096	0.84[EUR][1000 genomes]
rs192987	0.87[CEU][hapmap]
rs2921174	0.94[CHB][hapmap]
rs325818	0.87[CEU][hapmap]
rs325822	0.85[CEU][hapmap]
rs325832	0.87[CEU][hapmap]
rs325834	0.87[CEU][hapmap]
rs325836	0.87[CEU][hapmap]
rs325837	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs325851	1.00[CEU][hapmap]
rs325861	1.00[CEU][hapmap];0.87[CHB][hapmap];0.89[JPT][hapmap]
rs325865	1.00[CEU][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs325869	0.87[CHB][hapmap]
rs325874	0.87[CHB][hapmap]
rs325883	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3805717	0.93[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4301263	0.84[ASN][1000 genomes]
rs431544	0.98[ASN][1000 genomes]
rs4557462	0.84[ASN][1000 genomes]
rs4957150	0.94[CHB][hapmap]
rs4957374	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs609356	0.88[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs618362	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6414892	0.88[CHB][hapmap]
rs6865420	0.93[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6873877	1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs7718610	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[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	nsv830268	chr5:40897361-41138366	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41116400-41128400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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