Variant report

Variant	rs498352
Chromosome Location	chr1:47952962-47952963
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	chr1:47949495..47952018-chr1:47952098..47955438,3	K562	blood:
2	chr1:47950842..47954097-chr1:47960084..47963904,4	K562	blood:

Variant related genes	Relation type
ENSG00000271355	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10158498	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10158499	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10749868	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10890483	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10890484	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10890485	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1337527	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1337528	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1415541	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1572547	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1572548	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2065946	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2065947	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2065948	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs502997	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs512014	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs513464	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs517384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs518025	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs570605	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs578633	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs663650	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6693428	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7517146	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7528714	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7537527	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7540974	0.82[AMR][1000 genomes]
rs7543774	0.88[EUR][1000 genomes]
rs7544826	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7547288	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7552647	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7555100	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]

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	nsv1001779	chr1:47884229-48111485	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv871299	chr1:47889417-48057890	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv2755190	chr1:47907580-48048680	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47947000-47953200	Weak transcription	A549	lung
2	chr1:47948600-47953000	Weak transcription	Stomach Mucosa	stomach

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