Variant report

Variant	rs7709926
Chromosome Location	chr5:43211753-43211754
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43065098..43067476-chr5:43209334..43211834,2	K562	blood:
2	chr5:43210216..43213032-chr5:43312900..43314906,2	K562	blood:
3	chr5:43210863..43212706-chr5:43215151..43217354,2	K562	blood:
4	chr5:43167755..43169818-chr5:43211649..43214086,2	K562	blood:
5	chr5:43203439..43205261-chr5:43211567..43213375,3	K562	blood:
6	chr5:43065171..43067476-chr5:43209019..43211870,3	K562	blood:

Variant related genes	Relation type
ENSG00000172262	Chromatin interaction
ENSG00000112972	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10045186	0.94[EUR][1000 genomes]
rs10045460	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10056788	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10062177	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10066481	0.94[EUR][1000 genomes]
rs10473304	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10473305	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10512819	0.94[EUR][1000 genomes]
rs13356344	0.94[EUR][1000 genomes]
rs16873170	0.94[EUR][1000 genomes]
rs28394528	0.94[EUR][1000 genomes]
rs28600138	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28697178	0.94[EUR][1000 genomes]
rs4421113	0.94[EUR][1000 genomes]
rs4428421	0.83[EUR][1000 genomes]
rs55799546	0.94[EUR][1000 genomes]
rs58488720	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6867229	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6868632	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6885598	0.94[EUR][1000 genomes]
rs6887169	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72752582	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72752598	0.91[AMR][1000 genomes]
rs72752601	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73751045	0.94[EUR][1000 genomes]
rs73751047	0.94[EUR][1000 genomes]
rs7701546	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9292866	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	nsv830274	chr5:43095551-43226087	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	138 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	chr5:43196200-43245400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr5:43205600-43215000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:43208000-43214200	Enhancers	Placenta	Placenta
4	chr5:43208800-43212000	Enhancers	K562	blood
5	chr5:43209000-43215000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:43209400-43218600	Weak transcription	Brain Anterior Caudate	brain
7	chr5:43209600-43215400	Weak transcription	Brain Substantia Nigra	brain
8	chr5:43209600-43218600	Weak transcription	Brain Angular Gyrus	brain
9	chr5:43209600-43218600	Weak transcription	Brain Hippocampus Middle	brain
10	chr5:43209600-43221400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr5:43209600-43245200	Weak transcription	Brain Inferior Temporal Lobe	brain

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