Variant report

Variant	rs27575
Chromosome Location	chr5:97984911-97984912
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1508791	0.82[EUR][1000 genomes]
rs152984	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs152985	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs152989	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs162676	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs183628	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs251532	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2545678	0.80[EUR][1000 genomes]
rs2545685	0.80[AMR][1000 genomes]
rs2547958	0.82[EUR][1000 genomes]
rs2549200	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2591443	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2591445	0.80[AMR][1000 genomes]
rs2591447	0.85[CEU][hapmap];0.82[CHB][hapmap];0.82[TSI][hapmap]
rs2591449	0.80[AMR][1000 genomes]
rs2662250	0.80[AMR][1000 genomes]
rs27021	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs27022	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs27024	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs27391	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs27861	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28078	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs29768	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs29771	1.00[CEU][hapmap];0.81[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs39579	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs466366	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs468562	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs469491	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs720859	0.84[AMR][1000 genomes];0.82[EUR][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	nsv1016611	chr5:97873846-98035559	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv537816	chr5:97873846-98035559	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv1029509	chr5:97888644-98040172	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv882413	chr5:97918829-98022320	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs27575	RGMB	Cis_1M	lymphoblastoid	RTeQTL
rs27575	RHOBTB3	cis	cerebellum	SCAN
rs27575	RGMB-AS1	cis	Adipose Subcutaneous	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:97979600-97985800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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