Variant report

Variant	rs373059
Chromosome Location	chr5:112188437-112188438
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112187455..112190392-chr5:112195264..112197441,4	MCF-7	breast:
2	chr5:112188139..112189765-chr5:112194415..112196734,2	K562	blood:
3	chr5:112180694..112183270-chr5:112188278..112192219,3	K562	blood:
4	chr5:112180772..112183270-chr5:112188278..112191041,2	K562	blood:

Variant related genes	Relation type
ENSG00000272869	Chromatin interaction
ENSG00000153037	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1093611	0.81[ASN][1000 genomes]
rs149193	0.83[EUR][1000 genomes]
rs153544	0.84[EUR][1000 genomes]
rs153549	0.83[ASN][1000 genomes]
rs153551	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs153552	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs154344	0.84[EUR][1000 genomes]
rs1914	0.81[AMR][1000 genomes]
rs1966476	0.82[ASN][1000 genomes]
rs2229992	0.80[ASN][1000 genomes]
rs2253987	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2431241	0.81[AMR][1000 genomes]
rs2464803	0.81[AMR][1000 genomes]
rs2545155	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2545156	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2545158	0.81[AMR][1000 genomes]
rs2545170	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2546106	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2546107	0.81[AMR][1000 genomes]
rs2546108	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2546112	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3317	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs351767	0.83[ASN][1000 genomes]
rs351768	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs351770	0.85[ASN][1000 genomes]
rs351772	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs368575	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs374613	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs382427	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs390092	0.81[AMR][1000 genomes]
rs395858	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs410701	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs41116	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs419155	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs448162	0.90[ASN][1000 genomes]
rs448475	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs448613	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs454968	0.95[ASN][1000 genomes]
rs456531	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs459102	0.81[ASN][1000 genomes]
rs460137	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs468751	0.83[EUR][1000 genomes]
rs469886	0.83[EUR][1000 genomes]
rs495794	0.83[ASN][1000 genomes]
rs505382	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs514763	0.82[ASN][1000 genomes]
rs548710	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs566419	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67293732	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs712663	0.80[ASN][1000 genomes]
rs712670	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7213	0.83[ASN][1000 genomes]
rs818426	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs818428	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs818429	0.81[ASN][1000 genomes]
rs818430	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs818797	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032464	chr5:112076061-112192380	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	nsv537862	chr5:112076061-112192380	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	esv33290	chr5:112110808-112238295	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1029271	chr5:112113308-112325943	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv1034239	chr5:112161239-112194693	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	nsv529536	chr5:112174106-112269758	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs373059	REEP5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:0 , 50 per page) page:

No data

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links