Variant report

Variant	rs1054052
Chromosome Location	chr10:23303253-23303254
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:23303236..23310250-chr10:23341340..23346193,13	K562	blood:
2	chr10:23302995..23309769-chr10:23341340..23346193,8	K562	blood:
3	chr10:23284883..23286665-chr10:23302746..23304399,2	K562	blood:

Variant related genes	Relation type
ENSG00000223131	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1060761	0.81[JPT][hapmap]
rs10764371	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10828396	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10828397	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11013228	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs11013239	0.83[AFR][1000 genomes]
rs11013240	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11013242	0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11013244	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11814322	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11814683	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs11817610	0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs11819616	0.96[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs12780334	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs1382577	0.87[CHB][hapmap];0.91[JPT][hapmap]
rs17441682	0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2219797	0.92[ASN][1000 genomes]
rs2927925	0.81[CEU][hapmap]
rs4748833	0.87[CHB][hapmap];0.86[JPT][hapmap];0.95[YRI][hapmap]
rs6482247	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7898352	0.80[JPT][hapmap]
rs7901137	0.82[AFR][1000 genomes];0.99[ASN][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	nsv975810	chr10:23302287-23306366	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
IgG glycosylation	23382691	GWAS catalog

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:23300000-23303800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr10:23300400-23303400	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr10:23301400-23311200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr10:23302200-23303400	Enhancers	Brain Hippocampus Middle	brain
5	chr10:23303000-23303400	Enhancers	Brain Cingulate Gyrus	brain
6	chr10:23303000-23303400	Enhancers	Brain Substantia Nigra	brain
7	chr10:23303200-23304000	Enhancers	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links