Variant report

Variant	rs17103253
Chromosome Location	chr1:47916965-47916966
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	chr1:47909689..47914443-chr1:47914601..47918861,5	K562	blood:
2	chr1:47910388..47913374-chr1:47915734..47917364,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10789508	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10890481	0.89[ASN][1000 genomes]
rs12035995	0.80[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.88[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12036198	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12046016	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12404237	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17103251	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3814005	0.80[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4926858	0.80[CEU][hapmap];0.85[CHB][hapmap];0.81[YRI][hapmap];0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4926865	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4926870	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4926871	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs533894	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs545670	0.81[AMR][1000 genomes]
rs6665045	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6666370	0.80[CEU][hapmap];0.84[CHB][hapmap];0.85[JPT][hapmap]
rs6673789	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6674100	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6689636	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6697911	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72902514	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs870357	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47907600-47918400	Weak transcription	Aorta	Aorta
2	chr1:47913000-47920800	Weak transcription	Right Atrium	heart
3	chr1:47915200-47917200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:47916800-47917000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
5	chr1:47916800-47917000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin

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