Variant report

Variant	rs4424016
Chromosome Location	chr5:95555247-95555248
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10866767	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11135457	0.80[EUR][1000 genomes]
rs11741888	0.81[EUR][1000 genomes]
rs11747615	0.86[EUR][1000 genomes]
rs11948972	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11959068	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12659143	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13178392	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13181198	0.86[EUR][1000 genomes]
rs1995186	0.84[EUR][1000 genomes]
rs34023054	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34639000	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34713740	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34973883	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3811942	0.81[EUR][1000 genomes]
rs3922467	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4355545	0.82[AFR][1000 genomes]
rs4529218	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4637573	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4869276	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62367170	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6866846	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7444135	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7716096	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv882390	chr5:95486940-95591580	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv830410	chr5:95505799-95666310	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv518730	chr5:95547545-95569569	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95545800-95555600	Weak transcription	Psoas Muscle	Psoas
2	chr5:95550800-95555400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:95550800-95555400	Weak transcription	NHLF	lung
4	chr5:95551400-95555600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr5:95551400-95555600	Weak transcription	A549	lung
6	chr5:95551400-95561600	Weak transcription	HepG2	liver
7	chr5:95553400-95555600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr5:95553800-95557200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:95555000-95555600	Enhancers	Osteobl	bone
10	chr5:95555000-95555800	Enhancers	NHDF-Ad	bronchial
11	chr5:95555000-95556000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:95555000-95556000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:95555000-95556000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr5:95555000-95557000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:95555000-95557600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:95555000-95557600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:95555200-95555600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:95555200-95555600	Enhancers	NH-A	brain
19	chr5:95555200-95556000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:95555200-95556000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr5:95555200-95557200	Enhancers	HSMM	muscle
22	chr5:95555200-95557400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:95555200-95557400	Enhancers	HMEC	breast

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