Variant report

Variant	rs149502
Chromosome Location	chr5:112269219-112269220
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112254440..112257035-chr5:112267383..112269669,3	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1093611	0.80[CEU][hapmap]
rs149192	0.84[ASN][1000 genomes]
rs153548	0.80[CEU][hapmap]
rs153558	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs153559	0.85[ASN][1000 genomes]
rs153562	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs153566	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs153568	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs153570	0.83[CEU][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs153571	0.81[EUR][1000 genomes]
rs173466	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs351770	0.81[CEU][hapmap]
rs430665	0.80[CEU][hapmap]
rs455412	0.87[CEU][hapmap]
rs458451	0.81[CEU][hapmap]
rs460832	0.84[CEU][hapmap]
rs461866	0.81[CEU][hapmap]
rs469523	0.84[CEU][hapmap];0.88[EUR][1000 genomes]
rs469675	0.80[EUR][1000 genomes]
rs469702	0.88[EUR][1000 genomes]
rs469716	0.84[CEU][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs469727	0.80[CEU][hapmap]
rs469827	0.81[CEU][hapmap]
rs497844	0.80[CEU][hapmap]
rs698405	0.80[CEU][hapmap]
rs712662	0.80[CEU][hapmap]
rs712665	0.80[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv1019756	chr5:112242315-112325943	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	esv2763866	chr5:112254282-112284223	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs149502	SRP19	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112258400-112287400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:112266000-112270800	Weak transcription	Placenta	Placenta
3	chr5:112267000-112269400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:112267400-112270000	Weak transcription	Primary B cells from cord blood	blood
5	chr5:112267400-112270200	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr5:112267600-112269400	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr5:112267600-112269800	Weak transcription	Primary B cells from peripheral blood	blood
8	chr5:112267600-112270400	Weak transcription	K562	blood
9	chr5:112268200-112270000	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr5:112268600-112270000	Enhancers	NHDF-Ad	bronchial
11	chr5:112268800-112270600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr5:112268800-112270800	Enhancers	NHLF	lung
13	chr5:112268800-112271800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:112269000-112270400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:112269000-112270600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:112269200-112270600	Enhancers	Osteobl	bone
17	chr5:112269200-112270800	Enhancers	Primary monocytes fromperipheralblood	blood

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