Variant report

Variant	rs2146205
Chromosome Location	chr1:168879353-168879354
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:168605162..168606714-chr1:168878547..168880681,2	K562	blood:
2	chr1:168874321..168876639-chr1:168878574..168880199,2	K562	blood:
3	chr1:168873646..168880836-chr1:169073615..169079308,19	MCF-7	breast:
4	chr1:168876521..168880322-chr1:168881956..168884576,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143153	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1022789	0.87[ASN][1000 genomes]
rs1028642	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10489363	0.87[CHB][hapmap]
rs10489364	0.86[JPT][hapmap]
rs10800395	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10919011	0.86[JPT][hapmap]
rs10919013	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10919019	0.82[TSI][hapmap]
rs11577020	0.85[CEU][hapmap]
rs12133503	0.87[CHB][hapmap]
rs12134708	0.87[CHB][hapmap];0.90[MEX][hapmap]
rs12562255	0.87[CHB][hapmap];0.91[MEX][hapmap]
rs1407477	0.95[CHB][hapmap];0.82[CHD][hapmap]
rs1570335	0.83[CHB][hapmap];0.87[CHD][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs16861737	0.87[CHB][hapmap];0.91[MEX][hapmap]
rs1885558	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2065129	0.86[JPT][hapmap]
rs2146204	0.85[CEU][hapmap]
rs2419395	0.87[CHB][hapmap]
rs34408738	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4656166	0.89[ASN][1000 genomes]
rs6427157	0.87[ASN][1000 genomes]
rs6427159	0.87[ASN][1000 genomes]
rs6657987	0.82[JPT][hapmap]
rs6670083	0.83[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs6670091	0.86[ASN][1000 genomes]
rs72695643	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7514435	0.83[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs7518480	0.87[CHB][hapmap]
rs7527859	0.87[ASN][1000 genomes]
rs7537225	0.82[CHB][hapmap]

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	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	nsv437258	chr1:168824111-168890420	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2146205	ALDH9A1	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168877200-168881400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:168877800-168883000	Weak transcription	Fetal Heart	heart
3	chr1:168878000-168886600	Weak transcription	Fetal Lung	lung
4	chr1:168879200-168890400	Weak transcription	Aorta	Aorta

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