Variant report

Variant	rs4428666
Chromosome Location	chr8:34881530-34881531
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10095892	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10100037	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10100826	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10103055	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10103980	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10105808	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10112892	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10113755	1.00[ASN][1000 genomes]
rs11985082	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11985509	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11996585	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13439316	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16883296	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16883314	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16883318	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16883376	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28665220	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28722910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4368974	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap]
rs59351220	1.00[ASN][1000 genomes]
rs67632002	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6995753	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7017513	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72629548	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72631003	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7817114	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7824852	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7839246	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7840788	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7843585	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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	nsv1017085	chr8:34742896-35594241	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv539546	chr8:34742896-35594241	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	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
rs4428666	WHSC1L1	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:34879600-34881600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr8:34879600-34881600	Enhancers	Hela-S3	cervix
3	chr8:34879600-34882000	Enhancers	HMEC	breast
4	chr8:34879800-34881600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:34879800-34881600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:34879800-34881600	Enhancers	NH-A	brain
7	chr8:34880600-34881600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:34880800-34886000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:34881200-34885200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr8:34881400-34884800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:34881400-34885800	Weak transcription	NHEK	skin
12	chr8:34881400-34886800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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