Variant report

Variant	rs331544
Chromosome Location	chr5:98147097-98147098
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:98144623..98147225-chr5:98149000..98150777,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs150935	0.87[EUR][1000 genomes]
rs152034	0.86[EUR][1000 genomes]
rs161734	0.89[EUR][1000 genomes]
rs161736	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs161737	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs161738	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs161739	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs161744	0.86[EUR][1000 genomes]
rs161745	0.86[EUR][1000 genomes]
rs161746	0.86[EUR][1000 genomes]
rs161749	0.86[EUR][1000 genomes]
rs161750	0.85[EUR][1000 genomes]
rs161940	0.86[EUR][1000 genomes]
rs161945	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs161957	0.86[EUR][1000 genomes]
rs2545733	0.86[EUR][1000 genomes]
rs2545735	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2545736	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2545737	0.86[EUR][1000 genomes]
rs2545738	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2545739	0.86[EUR][1000 genomes]
rs2545740	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2578576	0.86[EUR][1000 genomes]
rs2578577	0.86[EUR][1000 genomes]
rs2617514	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs325199	0.89[EUR][1000 genomes]
rs325203	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs325204	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs325208	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs325209	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs325214	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs326487	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs331541	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs331542	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs331548	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs331927	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs331928	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs469519	0.86[EUR][1000 genomes]
rs992774	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882414	chr5:98063710-98193164	Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv882415	chr5:98134186-98312447	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv882416	chr5:98146106-98312447	Bivalent/Poised TSS Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs331544	RGMB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98132600-98154000	Weak transcription	HSMM	muscle
2	chr5:98143000-98149200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:98144600-98148400	Weak transcription	NHDF-Ad	bronchial

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