Variant report

Variant	rs6988309
Chromosome Location	chr8:54225952-54225953
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10093014	1.00[AMR][1000 genomes]
rs10096135	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10096343	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10097399	1.00[AMR][1000 genomes]
rs10282757	1.00[AMR][1000 genomes]
rs28410741	1.00[AMR][1000 genomes]
rs28489408	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28520344	1.00[AMR][1000 genomes]
rs28525488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56187209	1.00[AMR][1000 genomes]
rs59786462	1.00[AMR][1000 genomes]
rs6989250	1.00[AMR][1000 genomes]
rs6997390	1.00[AMR][1000 genomes]
rs73585645	1.00[AMR][1000 genomes]
rs73679705	1.00[AMR][1000 genomes]
rs73679727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73679728	1.00[AMR][1000 genomes]
rs73679734	1.00[AMR][1000 genomes]
rs7839933	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016224	chr8:53719941-54367534	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv530534	chr8:53787984-54367353	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3377304	chr8:53873441-54380875	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2752674	chr8:54181147-54483747	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54223000-54226000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:54223000-54226400	Enhancers	Brain Germinal Matrix	brain
3	chr8:54223400-54229400	Weak transcription	HMEC	breast
4	chr8:54223600-54229400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:54224200-54226000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:54224200-54229000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr8:54224200-54229200	Weak transcription	NHEK	skin
8	chr8:54224200-54229400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:54225400-54226400	Enhancers	Fetal Brain Male	brain
10	chr8:54225600-54226400	Enhancers	Fetal Muscle Leg	muscle

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

what's new

Quick links