Variant report

Variant	rs7577893
Chromosome Location	chr2:114521023-114521024
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:114519834..114522706-chr2:114524263..114527074,3	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 8 )

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

rs_ID	r²[population]
rs10167730	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10172842	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10177576	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10179657	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10209098	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11123207	0.82[AMR][1000 genomes]
rs11686297	0.82[AMR][1000 genomes]
rs11694130	0.82[AMR][1000 genomes]
rs12711788	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1375332	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2122097	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2290108	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2305255	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2442136	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2687627	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28451366	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2900744	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36062527	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3816384	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3890789	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4848343	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4848345	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4848349	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4849270	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4849275	0.82[AMR][1000 genomes]
rs4849277	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4849279	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6711542	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7560480	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7600228	0.85[AMR][1000 genomes];0.89[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	nsv1009509	chr2:114432965-114557306	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv535896	chr2:114432965-114557306	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv2883	chr2:114507889-114535199	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs7577893	RPL23AP7	cis	Whole Blood	GTEx
rs7577893	RPL23AP7	cis	Esophagus Muscularis	GTEx
rs7577893	RPL23AP7	cis	Artery Aorta	GTEx
rs7577893	DDX11L2	cis	Whole Blood	GTEx
rs7577893	RPL23AP7	cis	Artery Tibial	GTEx
rs7577893	SLC35F5	Cis_1M	lymphoblastoid	RTeQTL
rs7577893	RPL23AP7	cis	lung	GTEx
rs7577893	RPL23AP7	cis	Muscle Skeletal	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114515600-114521600	Weak transcription	Duodenum Mucosa	Duodenum
2	chr2:114517600-114521200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:114517800-114521200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:114520600-114522200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:114520600-114522200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:114520800-114521200	Enhancers	HSMMtube	muscle
7	chr2:114521000-114526400	Weak transcription	NHDF-Ad	bronchial

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