Variant report

Variant	rs72678761
Chromosome Location	chr8:99083018-99083019
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:99076443..99079804-chr8:99082104..99085952,3	K562	blood:
2	chr8:99056168..99061839-chr8:99079286..99085129,10	MCF-7	breast:
3	chr8:99056787..99062445-chr8:99080165..99085454,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000177459	Chromatin interaction
ENSG00000252755	Chromatin interaction
ENSG00000156482	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10090458	0.83[EUR][1000 genomes]
rs11994638	0.83[EUR][1000 genomes]
rs12375372	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12674810	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs12675608	1.00[AFR][1000 genomes]
rs12680911	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs1378121	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16892217	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs16896467	1.00[AFR][1000 genomes]
rs16896468	1.00[AFR][1000 genomes]
rs16896471	1.00[AFR][1000 genomes]
rs16896503	0.83[EUR][1000 genomes]
rs16896514	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs16896518	0.83[EUR][1000 genomes]
rs16896521	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs16896531	0.83[EUR][1000 genomes]
rs16896564	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16896600	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1961270	0.83[EUR][1000 genomes]
rs2010014	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2045805	1.00[AFR][1000 genomes]
rs2045807	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2061053	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2290473	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs34354078	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4734381	1.00[AFR][1000 genomes]
rs4735519	0.80[EUR][1000 genomes]
rs59704264	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60346298	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs60580631	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs6980810	1.00[AFR][1000 genomes]
rs6988458	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7010226	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72677062	1.00[AFR][1000 genomes]
rs72677085	1.00[AFR][1000 genomes]
rs72677098	1.00[AFR][1000 genomes]
rs72678728	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72678733	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72678734	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72678737	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72678752	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72678755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72678762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7830701	0.93[EUR][1000 genomes]
rs7843262	0.82[AMR][1000 genomes];0.95[EUR][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	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv465745	chr8:99061992-99116201	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv611805	chr8:99061992-99116201	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 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	chr8:99077600-99083200	Enhancers	Liver	Liver
2	chr8:99080200-99083400	Enhancers	HepG2	liver
3	chr8:99080800-99084400	Enhancers	Fetal Intestine Small	intestine
4	chr8:99082000-99083400	Enhancers	Placenta	Placenta
5	chr8:99082200-99084400	Enhancers	Fetal Intestine Large	intestine
6	chr8:99082400-99083600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr8:99082400-99090200	Weak transcription	Stomach Mucosa	stomach
8	chr8:99082400-99090800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr8:99082800-99083200	Weak transcription	Pancreas	Pancrea
10	chr8:99083000-99083400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:99083000-99084000	Flanking Active TSS	GM12878-XiMat	blood

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