Variant report

Variant	rs4121652
Chromosome Location	chr4:74985223-74985224
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10938107	0.91[EUR][1000 genomes]
rs12642974	0.91[EUR][1000 genomes]
rs13124617	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13128896	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1371798	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1371799	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1866755	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3806792	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs491641	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs549280	0.92[EUR][1000 genomes]
rs72652934	0.91[EUR][1000 genomes]
rs7667376	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7686861	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs882638	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9131	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs981458	0.91[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	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1004768	chr4:74774372-75109579	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1006218	chr4:74782324-75105424	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1006029	chr4:74793922-74986664	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74980600-74988800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:74982600-74985800	Enhancers	Dnd41	blood
3	chr4:74982800-74987200	Enhancers	Fetal Thymus	thymus
4	chr4:74982800-74987200	Enhancers	Thymus	Thymus
5	chr4:74983600-74985600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:74983600-74985600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:74983600-74985600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:74983600-74985600	Weak transcription	Stomach Mucosa	stomach
9	chr4:74983600-74987600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:74983600-74988200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:74983600-74988200	Weak transcription	Brain Hippocampus Middle	brain
12	chr4:74983600-74988400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr4:74983600-74988400	Weak transcription	NHDF-Ad	bronchial
14	chr4:74983600-74988400	Weak transcription	Osteobl	bone
15	chr4:74983600-74988600	Weak transcription	Adipose Nuclei	Adipose
16	chr4:74983800-74985800	Weak transcription	Liver	Liver
17	chr4:74983800-74988200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:74984600-74988800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr4:74984800-74985800	Weak transcription	NHEK	skin
20	chr4:74984800-74988800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr4:74985000-74985400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:74985000-74986200	Weak transcription	HMEC	breast

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