Variant report

Variant	rs11992921
Chromosome Location	chr8:54829323-54829324
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10504159	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11984932	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1483537	1.00[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap]
rs16919584	1.00[CEU][hapmap]
rs16919648	1.00[CEU][hapmap]
rs16919650	1.00[CEU][hapmap];0.86[CHD][hapmap];0.82[JPT][hapmap]
rs16919652	1.00[CEU][hapmap];0.82[JPT][hapmap]
rs16919653	1.00[CEU][hapmap];0.86[CHD][hapmap];0.82[JPT][hapmap]
rs16919658	1.00[CEU][hapmap];0.82[JPT][hapmap]
rs16919683	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs16919694	1.00[CEU][hapmap];0.82[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1905359	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2128816	1.00[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap]
rs2128817	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap]
rs2128819	1.00[CEU][hapmap]
rs55938755	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56788440	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56863500	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56900698	1.00[EUR][1000 genomes]
rs57122000	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57381301	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58070188	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58344188	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58603618	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58780122	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59371117	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59537268	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59633885	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60060985	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60067061	0.85[AMR][1000 genomes]
rs61054351	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6473896	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs7005604	1.00[CEU][hapmap]
rs73589234	1.00[ASN][1000 genomes]
rs73680368	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73680370	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73680373	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73680374	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7821073	1.00[CEU][hapmap];0.86[CHD][hapmap];1.00[MEX][hapmap]
rs7825816	1.00[ASN][1000 genomes]
rs7838182	1.00[CEU][hapmap];0.86[CHD][hapmap]
rs936685	1.00[CEU][hapmap];0.82[JPT][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	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54818600-54843600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:54819400-54830200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:54819600-54831000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:54819800-54830600	Weak transcription	NHLF	lung
5	chr8:54823000-54830600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:54825000-54833000	Weak transcription	A549	lung
7	chr8:54825800-54829400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:54825800-54829400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:54826600-54830200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:54827000-54830000	Weak transcription	HMEC	breast
11	chr8:54827000-54830400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:54827600-54829600	ZNF genes & repeats	GM12878-XiMat	blood
13	chr8:54827800-54829400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:54828000-54843600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:54828400-54830200	Weak transcription	NHEK	skin
16	chr8:54828400-54842800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:54829200-54829600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:54829200-54843400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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