Variant report

Variant	rs2504040
Chromosome Location	chr1:179714638-179714639
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:179713754..179715803-chr1:179723110..179724876,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1052447	1.00[ASN][1000 genomes]
rs10798718	1.00[ASN][1000 genomes]
rs10798719	0.99[ASN][1000 genomes]
rs10798720	0.99[ASN][1000 genomes]
rs10798721	0.99[ASN][1000 genomes]
rs10913874	1.00[ASN][1000 genomes]
rs10913876	1.00[ASN][1000 genomes]
rs10913877	1.00[ASN][1000 genomes]
rs10913878	1.00[ASN][1000 genomes]
rs10913879	0.99[ASN][1000 genomes]
rs11588754	0.80[ASN][1000 genomes]
rs12047821	0.99[ASN][1000 genomes]
rs12408874	1.00[ASN][1000 genomes]
rs12408882	1.00[ASN][1000 genomes]
rs2245195	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2245610	0.85[ASN][1000 genomes]
rs2245702	0.85[ASN][1000 genomes]
rs2318389	1.00[ASN][1000 genomes]
rs2454193	0.89[ASN][1000 genomes]
rs2454195	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2454196	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2454197	0.87[ASN][1000 genomes]
rs2487739	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2487740	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2504032	0.82[ASN][1000 genomes]
rs2504033	0.82[ASN][1000 genomes]
rs2504035	0.85[ASN][1000 genomes]
rs2504038	0.85[ASN][1000 genomes]
rs2504039	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2504041	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2504042	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2504043	0.85[ASN][1000 genomes]
rs2504048	0.85[ASN][1000 genomes]
rs2504049	0.85[ASN][1000 genomes]
rs2504053	0.93[ASN][1000 genomes]
rs3845381	1.00[ASN][1000 genomes]
rs3845382	0.96[ASN][1000 genomes]
rs3845383	0.95[ASN][1000 genomes]
rs3856045	1.00[ASN][1000 genomes]
rs3909014	0.99[ASN][1000 genomes]
rs3909015	1.00[ASN][1000 genomes]
rs4269737	0.91[ASN][1000 genomes]
rs4469684	1.00[ASN][1000 genomes]
rs4511077	1.00[ASN][1000 genomes]
rs4651050	0.96[ASN][1000 genomes]
rs60556788	0.97[ASN][1000 genomes]
rs61828370	0.99[ASN][1000 genomes]
rs6663482	1.00[ASN][1000 genomes]
rs7365663	0.90[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	nsv548339	chr1:179686244-179722827	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1009961	chr1:179714247-179790110	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179713000-179715200	Bivalent/Poised TSS	Fetal Thymus	thymus
2	chr1:179713400-179715200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:179713600-179715000	Bivalent Enhancer	Fetal Intestine Small	intestine

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