Variant report

Variant	rs258047
Chromosome Location	chr5:118766143-118766144
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1047322	0.83[AMR][1000 genomes]
rs10478421	0.83[ASN][1000 genomes]
rs10478422	0.95[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11205	0.95[CHB][hapmap]
rs11241507	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs1155777	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs11949608	0.91[CHB][hapmap];0.80[JPT][hapmap]
rs1490756	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs150938	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs154632	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs165995	0.95[CHB][hapmap]
rs17145464	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs1848554	0.91[CHB][hapmap];0.83[AMR][1000 genomes]
rs193346	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1995794	0.87[CHB][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2455466	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2455467	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2457222	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs257969	0.91[CHB][hapmap];0.90[JPT][hapmap]
rs257985	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs258050	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs258051	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2914210	0.95[CHB][hapmap];0.81[JPT][hapmap]
rs32643	0.83[ASN][1000 genomes]
rs32644	0.82[ASN][1000 genomes]
rs32645	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs32646	0.82[ASN][1000 genomes]
rs32649	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3797368	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs3797372	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs3822527	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs455991	0.91[CHB][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6888463	0.83[AMR][1000 genomes]
rs7716785	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs7721752	0.95[CHB][hapmap];0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs924623	0.83[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030717	chr5:118709310-118836951	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv427732	chr5:118730999-119034741	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv4974	chr5:118750259-118795376	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118763800-118773000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr5:118764400-118767000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:118764600-118766800	Weak transcription	K562	blood
4	chr5:118764800-118766800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr5:118765000-118770800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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