Variant report

Variant	rs11130122
Chromosome Location	chr3:47249571-47249572
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10865945	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1091068	0.81[AFR][1000 genomes]
rs11922925	0.94[AFR][1000 genomes]
rs12330516	0.87[AMR][1000 genomes]
rs12491254	0.84[AFR][1000 genomes]
rs13078181	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs13079174	0.89[AFR][1000 genomes]
rs13084060	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs13323092	0.87[AMR][1000 genomes]
rs1874264	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1979736	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2350642	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs28735306	0.87[AMR][1000 genomes]
rs295431	0.81[AFR][1000 genomes]
rs295432	0.81[AFR][1000 genomes]
rs295443	0.87[AMR][1000 genomes]
rs295444	0.87[AMR][1000 genomes]
rs295445	0.87[AMR][1000 genomes]
rs295453	0.81[AFR][1000 genomes]
rs295454	0.81[AFR][1000 genomes]
rs295455	0.81[AFR][1000 genomes]
rs295456	0.81[AFR][1000 genomes]
rs295459	0.81[AFR][1000 genomes]
rs4018904	0.87[AMR][1000 genomes]
rs6442062	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6442063	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs648226	0.81[AFR][1000 genomes]
rs6767868	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6772449	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6778673	0.87[AMR][1000 genomes]
rs6778687	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6787210	0.83[AFR][1000 genomes]
rs6808117	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6808629	0.87[AMR][1000 genomes]
rs73831482	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7615774	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7630154	0.87[AMR][1000 genomes]
rs7639121	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7643150	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7643181	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7644382	0.87[AMR][1000 genomes]
rs7649413	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7652492	0.87[AMR][1000 genomes]
rs807930	0.81[AFR][1000 genomes]
rs903538	0.87[AMR][1000 genomes]
rs924009	0.87[AMR][1000 genomes]
rs9819475	0.87[AMR][1000 genomes]
rs9823480	0.87[AMR][1000 genomes]
rs9826488	0.87[AMR][1000 genomes]
rs9827293	0.87[AMR][1000 genomes]
rs9828473	0.87[AMR][1000 genomes]
rs9852167	0.87[AMR][1000 genomes]
rs9861247	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs9861265	0.87[AMR][1000 genomes]
rs9869489	0.87[AMR][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	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1007714	chr3:47084387-47331570	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv590211	chr3:47189485-47256057	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1014457	chr3:47222292-47335175	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv536560	chr3:47222292-47335175	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	esv3386423	chr3:47244248-47250946	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv238095	chr3:47248230-47253427	Weak transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	esv3334420	chr3:47249380-47249623	Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47207000-47253800	Weak transcription	Aorta	Aorta
2	chr3:47208000-47249600	Weak transcription	Ovary	ovary
3	chr3:47208200-47256400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr3:47208200-47276600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:47221000-47250200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:47223400-47256600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr3:47223800-47252600	Weak transcription	Fetal Muscle Leg	muscle
8	chr3:47223800-47269200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr3:47224200-47250200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr3:47236200-47256800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:47238400-47256400	Weak transcription	Right Atrium	heart
12	chr3:47245400-47266600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr3:47247000-47269400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr3:47247400-47249600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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