Variant report

Variant	rs1346145
Chromosome Location	chr4:79625240-79625241
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:79620166..79622821-chr4:79623905..79627089,5	K562	blood:
2	chr4:79612799..79615666-chr4:79623635..79625663,2	K562	blood:
3	chr4:79624848..79626853-chr4:79632254..79635758,4	K562	blood:
4	chr4:79624162..79626279-chr4:79696304..79697859,2	K562	blood:
5	chr4:79624848..79628540-chr4:79632254..79635758,6	K562	blood:

Variant related genes	Relation type
ENSG00000138756	Chromatin interaction
ENSG00000260278	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10008008	0.95[EUR][1000 genomes]
rs10008069	0.83[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10029214	0.81[TSI][hapmap]
rs10084949	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs10857035	0.80[AMR][1000 genomes]
rs1134123	0.85[EUR][1000 genomes]
rs1134124	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11931947	0.90[EUR][1000 genomes]
rs11932080	0.80[AMR][1000 genomes]
rs13101964	0.92[EUR][1000 genomes]
rs13110339	0.80[AMR][1000 genomes]
rs13114489	0.82[EUR][1000 genomes]
rs13133277	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1346144	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1469289	0.94[EUR][1000 genomes]
rs1469290	0.95[EUR][1000 genomes]
rs1582759	0.95[EUR][1000 genomes]
rs1806906	0.95[TSI][hapmap];0.84[EUR][1000 genomes]
rs1834519	0.90[CEU][hapmap];0.83[MEX][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes]
rs1966537	0.94[EUR][1000 genomes]
rs28579596	0.80[AMR][1000 genomes]
rs2867465	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2867466	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2903578	0.94[EUR][1000 genomes]
rs4074675	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4257676	0.94[CEU][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4264856	0.95[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4321658	0.94[EUR][1000 genomes]
rs4365753	0.95[CEU][hapmap];0.83[MEX][hapmap];0.97[TSI][hapmap];0.94[EUR][1000 genomes]
rs4472162	0.91[CEU][hapmap];0.98[EUR][1000 genomes]
rs4472163	0.91[CEU][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs4495064	0.84[TSI][hapmap];0.80[AMR][1000 genomes]
rs4560439	0.95[CEU][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4612	0.81[TSI][hapmap]
rs4619914	0.95[CEU][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6533827	0.80[AMR][1000 genomes]
rs6533940	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6533951	0.81[TSI][hapmap]
rs6815367	0.84[AMR][1000 genomes]
rs6818230	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6825593	0.92[EUR][1000 genomes]
rs6842686	0.84[TSI][hapmap]
rs6842723	0.84[TSI][hapmap]
rs6855458	0.87[ASW][hapmap];0.91[CEU][hapmap];0.83[MEX][hapmap];0.90[MKK][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7656801	0.80[AMR][1000 genomes]
rs7672208	0.97[EUR][1000 genomes]
rs7675464	0.80[AMR][1000 genomes]
rs7677162	0.89[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs7677783	0.80[AMR][1000 genomes]
rs7694971	0.97[EUR][1000 genomes]
rs7699519	0.97[EUR][1000 genomes]
rs7699905	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9992088	0.83[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1346145	ANXA3	cis	cerebellum	SCAN
rs1346145	CXCL10	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79624800-79626800	Enhancers	K562	blood
2	chr4:79624800-79628800	Enhancers	Fetal Intestine Small	intestine
3	chr4:79625000-79628400	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr4:79625200-79625800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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