Variant report

Variant	rs623193
Chromosome Location	chr5:51979514-51979515
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10512982	0.81[ASN][1000 genomes]
rs10805439	0.82[ASN][1000 genomes]
rs12654895	0.81[ASN][1000 genomes]
rs164427	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs181271	0.85[AMR][1000 genomes]
rs350412	0.82[AMR][1000 genomes]
rs350422	0.85[AMR][1000 genomes]
rs350424	0.82[AMR][1000 genomes]
rs351908	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs351957	0.85[AMR][1000 genomes]
rs351959	0.85[AMR][1000 genomes]
rs351960	0.84[AMR][1000 genomes]
rs35615166	0.81[ASN][1000 genomes]
rs35741743	0.81[ASN][1000 genomes]
rs62358725	0.92[ASN][1000 genomes]
rs635890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6450076	0.94[ASN][1000 genomes]
rs67662653	0.86[AMR][1000 genomes]
rs6879654	0.94[ASN][1000 genomes]
rs6893614	0.94[ASN][1000 genomes]
rs768442	0.81[ASN][1000 genomes]
rs768443	0.81[ASN][1000 genomes]
rs7715220	0.80[ASN][1000 genomes]
rs7716424	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754787	chr5:51688543-52193243	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv462187	chr5:51758804-52333420	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv598163	chr5:51758804-52333420	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv471013	chr5:51779197-52339114	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:51971800-51987400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:51972200-51979800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr5:51978600-51979800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:51978800-51979800	Weak transcription	HSMM	muscle
5	chr5:51978800-51985800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:51978800-51986000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr5:51978800-51986800	Weak transcription	NHLF	lung
8	chr5:51979000-51986200	Weak transcription	HSMMtube	muscle
9	chr5:51979200-51985800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr5:51979200-51986200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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