Variant report

Variant	rs1591997
Chromosome Location	chr6:24263022-24263023
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	chr6:24255591..24257223-chr6:24261586..24264170,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10806988	0.82[ASW][hapmap]
rs12189861	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12190103	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12190202	0.97[EUR][1000 genomes]
rs12197537	0.97[EUR][1000 genomes]
rs12199068	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12201442	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12205083	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12215082	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1541190	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2792682	0.88[ASN][1000 genomes]
rs28993075	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28993077	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28993078	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28993079	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2994542	0.92[ASN][1000 genomes]
rs3789226	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3846827	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3846828	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4535539	0.84[GIH][hapmap]
rs4612153	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6907864	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6923278	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6923473	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72830866	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs807699	0.92[ASN][1000 genomes]
rs807709	0.88[ASN][1000 genomes]
rs807724	0.88[ASN][1000 genomes]
rs807726	0.85[ASN][1000 genomes]
rs9295616	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9460976	0.96[EUR][1000 genomes]
rs9460977	0.96[EUR][1000 genomes]
rs9460981	0.86[ASN][1000 genomes]
rs9460983	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9460984	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9467076	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs9467078	0.96[EUR][1000 genomes]
rs9467079	0.96[EUR][1000 genomes]
rs9467081	0.96[EUR][1000 genomes]
rs9467090	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029930	chr6:23481989-24289948	Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv427746	chr6:24221299-24305709	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1591997	PRSS16	cis	parietal	SCAN
rs1591997	HIST1H2AJ	cis	cerebellum	SCAN
rs1591997	KIAA1012	trans	cerebellum	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24243800-24270000	Weak transcription	Fetal Kidney	kidney
2	chr6:24261600-24263200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:24261600-24265200	Strong transcription	HepG2	liver
4	chr6:24262200-24263200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr6:24262200-24263200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:24262200-24263400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr6:24262400-24263200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:24262400-24263400	Enhancers	Pancreas	Pancrea
9	chr6:24263000-24263400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:24263000-24263400	ZNF genes & repeats	Fetal Intestine Small	intestine
11	chr6:24263000-24283000	Weak transcription	Fetal Intestine Large	intestine

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