Variant report

Variant	rs2484703
Chromosome Location	chr1:221129355-221129356
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:221052074..221054193-chr1:221129182..221132099,2	K562	blood:
2	chr1:221127384..221130183-chr1:221132251..221134433,2	K562	blood:
3	chr1:221127207..221129659-chr1:221129741..221132155,2	K562	blood:

Variant related genes	Relation type
ENSG00000257551	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10495159	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10779417	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10779418	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863573	0.91[EUR][1000 genomes]
rs11118632	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12022930	0.96[CEU][hapmap];0.82[CHB][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12140805	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1335927	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1335929	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1414519	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1414520	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2484704	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2484706	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2784276	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2784279	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2784280	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2784281	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2807832	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2807875	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2807876	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2807877	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2807881	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2992647	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2992649	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2992650	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3013553	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3013554	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3013556	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3013558	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6678632	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2484703	RRP15	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221126400-221132400	Enhancers	Muscle Satellite Cultured Cells	--
2	chr1:221126600-221131600	Enhancers	HSMM	muscle
3	chr1:221126600-221131600	Enhancers	HSMMtube	muscle
4	chr1:221126600-221132600	Enhancers	NHDF-Ad	bronchial
5	chr1:221126800-221130600	Weak transcription	K562	blood
6	chr1:221127600-221132000	Enhancers	Osteobl	bone
7	chr1:221128800-221132400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:221129000-221130400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:221129000-221132400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:221129000-221132600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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