Variant report

Variant	rs72846861
Chromosome Location	chr4:69611850-69611851
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11931829	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12651636	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1458233	1.00[EUR][1000 genomes]
rs17146778	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17146785	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17146907	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1913316	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2137646	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs294761	1.00[EUR][1000 genomes]
rs3100654	1.00[ASN][1000 genomes]
rs35502751	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3792628	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57176367	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57251507	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57290492	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57633916	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57732489	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57889376	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57970648	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58330002	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58752434	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59108315	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59166765	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60199344	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61140783	1.00[EUR][1000 genomes]
rs61301802	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61360717	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6600851	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6833082	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6837879	1.00[EUR][1000 genomes]
rs72846859	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72846860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72846868	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72848024	1.00[EUR][1000 genomes]
rs72848044	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73823929	1.00[EUR][1000 genomes]
rs983346	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs983347	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	esv2757061	chr4:69178920-69631668	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1005513	chr4:69446718-69890307	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	esv2763366	chr4:69592847-69661427	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1013885	chr4:69592847-69667996	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv829961	chr4:69592847-69695467	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv594579	chr4:69597175-69665970	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1014042	chr4:69599853-69667996	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv13953	chr4:69608522-69614042	Flanking Active TSS Enhancers Weak transcription Active TSS	lncRNA	1 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	chr4:69602800-69613400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:69609400-69612000	Enhancers	Stomach Mucosa	stomach
3	chr4:69609400-69612200	Enhancers	Fetal Intestine Large	intestine
4	chr4:69609800-69612000	Enhancers	Rectal Mucosa Donor 29	rectum
5	chr4:69609800-69615400	Enhancers	Fetal Intestine Small	intestine
6	chr4:69610000-69612000	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr4:69611200-69612000	Enhancers	HepG2	liver
8	chr4:69611400-69612000	Flanking Active TSS	A549	lung
9	chr4:69611800-69612000	Enhancers	Gastric	stomach
10	chr4:69611800-69614000	Weak transcription	Duodenum Mucosa	Duodenum

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