Variant report

Variant	rs71627592
Chromosome Location	chr5:43248640-43248641
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs13160133	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13169195	0.94[EUR][1000 genomes]
rs17303482	0.94[EUR][1000 genomes]
rs34031769	1.00[ASN][1000 genomes]
rs34398699	1.00[ASN][1000 genomes]
rs34439211	1.00[ASN][1000 genomes]
rs34810824	0.86[EUR][1000 genomes]
rs35764948	0.86[EUR][1000 genomes]
rs71627588	0.83[EUR][1000 genomes]
rs71627590	0.81[EUR][1000 genomes]
rs71627591	0.83[EUR][1000 genomes]
rs71627593	1.00[ASN][1000 genomes]
rs71627594	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
3	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
4	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
5	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
6	nsv508352	chr5:43237830-43391062	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43245200-43252800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr5:43246000-43252600	Weak transcription	Brain Substantia Nigra	brain
3	chr5:43246600-43281400	Weak transcription	Brain Hippocampus Middle	brain
4	chr5:43246800-43250200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr5:43247000-43249200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr5:43247200-43251000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr5:43247200-43255400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr5:43247400-43256600	Weak transcription	Brain Anterior Caudate	brain
9	chr5:43247600-43259800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr5:43247600-43261400	Weak transcription	Brain Angular Gyrus	brain
11	chr5:43247800-43248800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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