Variant report

Variant	rs7528148
Chromosome Location	chr1:216074778-216074779
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	chr1:216073591..216076133-chr1:216088257..216090062,2	K562	blood:
2	chr1:216074148..216076361-chr1:216095945..216097461,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCTD3-1	chr1:216074067-216074806	ENSG00000229242.1

Extended variants
information (count: 48 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10495009	0.88[MEX][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10495011	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12401812	0.84[EUR][1000 genomes]
rs12403949	0.84[EUR][1000 genomes]
rs12404427	0.84[EUR][1000 genomes]
rs12408624	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12409714	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12410843	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1347627	1.00[JPT][hapmap]
rs1436772	1.00[JPT][hapmap]
rs17025555	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17025589	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17025676	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs17025679	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs17025680	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs17025681	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs17025684	0.86[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap]
rs17025685	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs17025690	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs17025699	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs17025701	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs17025702	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs17025758	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs17025764	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17025797	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs17025799	0.86[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap]
rs17025802	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs17042187	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs1821761	1.00[JPT][hapmap]
rs2813727	1.00[JPT][hapmap]
rs4481823	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs4481824	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs4537521	1.00[JPT][hapmap]
rs566191	1.00[JPT][hapmap]
rs58215020	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs626192	1.00[JPT][hapmap]
rs646378	1.00[JPT][hapmap]
rs6540922	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs6676313	1.00[JPT][hapmap]
rs6682313	0.88[MEX][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6687538	1.00[JPT][hapmap]
rs6692241	1.00[JPT][hapmap]
rs7531943	1.00[ASW][hapmap];0.97[LWK][hapmap];0.88[MEX][hapmap];0.97[MKK][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]

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	nsv430324	chr1:215649163-216082605	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1006504	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv535288	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv949671	chr1:215942740-216120815	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv832548	chr1:215987089-216175724	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7528148	ANGEL2	cis	cerebellum	SCAN
rs7528148	SMYD2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216074000-216074800	Active TSS	Pancreatic Islets	Pancreatic Islet

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