Variant report

Variant	rs1423527
Chromosome Location	chr5:74602699-74602700
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74601851..74604093-chr5:74606288..74608285,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10045497	0.96[CEU][hapmap]
rs10070119	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10474433	0.81[ASW][hapmap];0.84[CEU][hapmap];0.82[GIH][hapmap];0.84[LWK][hapmap];0.87[TSI][hapmap]
rs10942734	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11749783	0.96[CEU][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap]
rs11957260	0.90[EUR][1000 genomes]
rs12654264	0.96[CEU][hapmap];0.86[CHD][hapmap];0.90[GIH][hapmap]
rs12916	0.88[CEU][hapmap];0.89[CHD][hapmap]
rs2112653	0.88[ASN][1000 genomes]
rs2126736	0.91[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.80[TSI][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2335418	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2878417	1.00[CEU][hapmap];0.82[CHB][hapmap];0.96[YRI][hapmap]
rs3843480	0.92[CEU][hapmap]
rs3843481	0.96[CEU][hapmap]
rs3846662	0.84[CEU][hapmap];0.88[CHD][hapmap];0.90[GIH][hapmap]
rs3846663	0.92[CEU][hapmap];0.89[CHD][hapmap]
rs4703667	0.81[EUR][1000 genomes]
rs4704200	0.91[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.80[TSI][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4704202	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6871667	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6878990	0.80[CEU][hapmap];0.82[CHD][hapmap];0.90[GIH][hapmap]
rs6892023	0.89[EUR][1000 genomes]
rs7702895	0.88[EUR][1000 genomes]
rs7703051	0.96[CEU][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap]
rs7722186	0.85[EUR][1000 genomes];0.91[ASN][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	nsv1016610	chr5:74403611-74627654	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2758000	chr5:74433760-74611714	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2759350	chr5:74433760-74611714	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv968211	chr5:74596362-74604577	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1423527	POC5	cis	parietal	SCAN
rs1423527	DMGDH	cis	parietal	SCAN
rs1423527	HMGCR	cis	cerebellum	SCAN
rs1423527	HMGCR	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74601200-74604000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr5:74602400-74606400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr5:74602600-74602800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links