Variant report

Variant	rs2112497
Chromosome Location	chr5:119557367-119557368
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10063474	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1015728	0.83[EUR][1000 genomes]
rs1023614	0.87[EUR][1000 genomes]
rs11241537	0.85[EUR][1000 genomes]
rs1157987	0.89[EUR][1000 genomes]
rs1157988	0.88[EUR][1000 genomes]
rs11740198	0.87[EUR][1000 genomes]
rs11954557	0.85[EUR][1000 genomes]
rs11954582	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12522109	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12719272	0.84[EUR][1000 genomes]
rs13171622	0.87[EUR][1000 genomes]
rs13185135	0.86[EUR][1000 genomes]
rs13360069	0.86[EUR][1000 genomes]
rs1422378	0.91[EUR][1000 genomes]
rs1422384	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1582471	0.85[EUR][1000 genomes]
rs1582472	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1592900	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2032825	0.87[EUR][1000 genomes]
rs2032826	0.87[EUR][1000 genomes]
rs2161264	0.81[EUR][1000 genomes]
rs2161265	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2161266	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6595219	0.87[EUR][1000 genomes]
rs6595220	0.87[EUR][1000 genomes]
rs67145013	0.85[EUR][1000 genomes]
rs6883360	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6887881	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7711749	0.87[EUR][1000 genomes]
rs7732018	0.87[EUR][1000 genomes]
rs7732463	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023146	chr5:119301891-119623417	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv537883	chr5:119301891-119623417	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv532200	chr5:119317901-120102513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv882781	chr5:119369334-119557828	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv432803	chr5:119419101-119659101	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv882782	chr5:119526332-119627087	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv882783	chr5:119532996-119605609	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	lncRNA	n/a	inside rSNPs	diseases
8	nsv882784	chr5:119537259-119606988	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119554800-119559400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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