Variant report

Variant	rs422548
Chromosome Location	chr4:69611272-69611273
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10000284	0.91[ASN][1000 genomes]
rs10006590	0.91[ASN][1000 genomes]
rs10010915	0.95[ASN][1000 genomes]
rs10019227	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10028938	0.91[ASN][1000 genomes]
rs10031653	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10032432	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10034195	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2271513	0.95[ASN][1000 genomes]
rs28488465	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs293404	0.80[AFR][1000 genomes]
rs293405	0.80[AFR][1000 genomes]
rs2942857	0.87[ASN][1000 genomes]
rs294762	0.91[ASN][1000 genomes]
rs294763	0.91[ASN][1000 genomes]
rs294766	0.85[ASN][1000 genomes]
rs294767	0.91[ASN][1000 genomes]
rs294768	0.91[ASN][1000 genomes]
rs294773	0.91[ASN][1000 genomes]
rs294775	0.91[ASN][1000 genomes]
rs294778	0.91[ASN][1000 genomes]
rs34100980	0.91[ASN][1000 genomes]
rs406668	0.80[AFR][1000 genomes]
rs59226493	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6815169	1.00[ASN][1000 genomes]
rs6832857	0.91[ASN][1000 genomes]
rs6834626	1.00[ASN][1000 genomes]
rs73823936	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73823942	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73823943	0.91[ASN][1000 genomes]
rs7673881	0.95[ASN][1000 genomes]
rs7681961	0.95[ASN][1000 genomes]
rs7687582	0.95[ASN][1000 genomes]
rs835308	0.91[ASN][1000 genomes]
rs835309	0.87[ASN][1000 genomes]
rs835310	0.91[ASN][1000 genomes]
rs835313	0.91[ASN][1000 genomes]
rs835314	0.91[ASN][1000 genomes]
rs835315	0.91[ASN][1000 genomes]
rs835317	0.91[ASN][1000 genomes]
rs835318	0.91[ASN][1000 genomes]
rs835319	0.91[ASN][1000 genomes]
rs9993124	0.91[ASN][1000 genomes]
rs9993496	0.91[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	chr4:69610000-69611800	Enhancers	Duodenum Mucosa	Duodenum
7	chr4:69610000-69612000	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr4:69610600-69611400	Active TSS	A549	lung
9	chr4:69610800-69611800	Weak transcription	Gastric	stomach
10	chr4:69611200-69612000	Enhancers	HepG2	liver

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