Variant report

Variant	rs28493519
Chromosome Location	chr1:47960978-47960979
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:47950842..47954097-chr1:47960084..47963904,4	K562	blood:
2	chr1:47954558..47956247-chr1:47959026..47961143,2	K562	blood:
3	chr1:47958683..47962723-chr1:47971589..47974688,3	K562	blood:
4	chr1:47905852..47907555-chr1:47959447..47961645,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1024108	0.83[EUR][1000 genomes]
rs11585530	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11588699	0.92[ASN][1000 genomes]
rs11590531	0.85[ASN][1000 genomes]
rs11799997	0.83[EUR][1000 genomes]
rs17103322	1.00[ASN][1000 genomes]
rs17103342	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17103383	0.83[EUR][1000 genomes]
rs2102437	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs471608	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs478526	0.83[EUR][1000 genomes]
rs560540	0.83[EUR][1000 genomes]
rs56404532	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs578335	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59326446	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59865928	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60503680	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs635710	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6681140	0.80[EUR][1000 genomes]
rs6688849	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72904553	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72904554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7531586	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7543243	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs822886	0.84[EUR][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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47960400-47961800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
2	chr1:47960600-47961000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
3	chr1:47960600-47961200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
4	chr1:47960800-47961400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
5	chr1:47960800-47961400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
6	chr1:47960800-47961400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:47960800-47961600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
8	chr1:47960800-47962200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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