Variant report

Variant	rs454968
Chromosome Location	chr5:112188456-112188457
allele	A/G
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: 65 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1093611	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs153546	0.82[ASN][1000 genomes]
rs153548	0.82[ASN][1000 genomes]
rs153550	0.82[ASN][1000 genomes]
rs153565	0.82[EUR][1000 genomes]
rs2545155	0.90[ASN][1000 genomes]
rs2545156	0.87[ASN][1000 genomes]
rs2545170	0.84[ASN][1000 genomes]
rs2546112	0.92[ASN][1000 genomes]
rs3317	0.83[ASN][1000 genomes]
rs351767	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs351768	0.87[ASN][1000 genomes]
rs351769	0.81[EUR][1000 genomes]
rs351770	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs368575	0.83[ASN][1000 genomes]
rs373059	0.95[ASN][1000 genomes]
rs374613	0.95[ASN][1000 genomes]
rs380144	0.80[EUR][1000 genomes]
rs382427	0.99[ASN][1000 genomes]
rs395858	0.99[ASN][1000 genomes]
rs410701	0.84[ASN][1000 genomes]
rs41116	0.93[ASN][1000 genomes]
rs419155	0.83[ASN][1000 genomes]
rs429427	0.90[EUR][1000 genomes]
rs430665	0.83[EUR][1000 genomes]
rs434157	0.81[EUR][1000 genomes]
rs439456	0.85[EUR][1000 genomes]
rs448162	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs448475	0.93[ASN][1000 genomes]
rs448613	0.83[ASN][1000 genomes]
rs455412	0.83[EUR][1000 genomes]
rs456531	0.80[ASN][1000 genomes]
rs458451	0.83[EUR][1000 genomes]
rs459102	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs460137	0.90[ASN][1000 genomes]
rs460832	0.83[EUR][1000 genomes]
rs469827	0.81[ASN][1000 genomes]
rs481789	0.83[EUR][1000 genomes]
rs495794	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs497844	0.83[EUR][1000 genomes]
rs505382	0.95[ASN][1000 genomes]
rs514763	0.85[ASN][1000 genomes]
rs565453	0.83[EUR][1000 genomes]
rs565603	0.83[EUR][1000 genomes]
rs566419	0.94[ASN][1000 genomes]
rs580237	0.81[EUR][1000 genomes]
rs67293732	0.80[ASN][1000 genomes]
rs712662	0.83[EUR][1000 genomes]
rs712663	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs712665	0.83[EUR][1000 genomes]
rs712666	0.81[EUR][1000 genomes]
rs712670	0.83[ASN][1000 genomes]
rs712671	0.84[EUR][1000 genomes]
rs7213	0.87[ASN][1000 genomes]
rs818428	0.80[ASN][1000 genomes]
rs818429	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs818430	0.80[ASN][1000 genomes]
rs818797	0.80[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
rs454968	SRP19	Cis_1M	lymphoblastoid	RTeQTL

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

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
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