Variant report

Variant	rs16926130
Chromosome Location	chr8:61314688-61314689
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11997369	0.92[ASN][1000 genomes]
rs16918848	1.00[AMR][1000 genomes]
rs16926079	1.00[AMR][1000 genomes]
rs16926106	0.82[ASN][1000 genomes]
rs16926108	0.82[ASN][1000 genomes]
rs16926113	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs16926114	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs16926128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16926228	0.92[ASN][1000 genomes]
rs16926275	1.00[AMR][1000 genomes]
rs59690563	1.00[AMR][1000 genomes]
rs60618306	1.00[AMR][1000 genomes]
rs6991970	0.82[ASN][1000 genomes]
rs73243989	1.00[AMR][1000 genomes]
rs73243992	1.00[AMR][1000 genomes]
rs73243994	1.00[AMR][1000 genomes]
rs73245610	1.00[AMR][1000 genomes]
rs73245619	1.00[AMR][1000 genomes]
rs73245642	1.00[AMR][1000 genomes]
rs73247786	1.00[AMR][1000 genomes]
rs73250102	0.82[ASN][1000 genomes]
rs73251503	0.82[ASN][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	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1022752	chr8:61095248-61322302	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv3371465	chr8:61115030-61356658	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv831334	chr8:61148796-61330190	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61309000-61315200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:61309000-61330000	Weak transcription	Right Atrium	heart
3	chr8:61309200-61315000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:61309600-61315400	Weak transcription	Brain Anterior Caudate	brain
5	chr8:61310000-61315200	Weak transcription	Brain Hippocampus Middle	brain
6	chr8:61310000-61315400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr8:61310000-61315400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr8:61313600-61316200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr8:61314400-61314800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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