Variant report

Variant	rs4753124
Chromosome Location	chr11:93823235-93823236
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:93822033..93824296-chr11:93825015..93826574,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11604580	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11607757	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12419615	0.88[CEU][hapmap];0.90[JPT][hapmap]
rs12421996	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs16919533	0.87[CEU][hapmap]
rs16919917	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16919942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4342991	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4408267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4593973	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4753123	0.83[AMR][1000 genomes]
rs56175344	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs57562692	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7117339	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs72968710	0.82[AMR][1000 genomes]
rs72968720	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs72968738	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72968745	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72970792	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9888156	0.88[CEU][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	nsv898183	chr11:93725384-93906735	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv898184	chr11:93741612-93969726	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs4753124	GPR83	cis	cerebellum	SCAN
rs4753124	HEPHL1	cis	Artery Tibial	GTEx
rs4753124	MRE11A	cis	parietal	SCAN
rs4753124	PANX1	cis	parietal	SCAN
rs4753124	CNKSR2	trans	parietal	SCAN
rs4753124	HEPHL1	cis	Artery Aorta	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93802400-93833400	Weak transcription	HMEC	breast
2	chr11:93816800-93833400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr11:93819600-93833400	Weak transcription	NHEK	skin
4	chr11:93820400-93833200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:93821800-93827000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:93822200-93825400	Enhancers	Fetal Intestine Large	intestine
7	chr11:93823000-93825200	Enhancers	Fetal Intestine Small	intestine

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