Variant report

Variant	rs4486659
Chromosome Location	chr8:48414265-48414266
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10094128	0.83[EUR][1000 genomes]
rs10109113	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10441581	0.83[EUR][1000 genomes]
rs12547497	0.87[ASN][1000 genomes]
rs13279327	0.82[ASN][1000 genomes]
rs2130411	0.84[EUR][1000 genomes]
rs4436571	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4594029	0.87[EUR][1000 genomes]
rs4873386	0.87[EUR][1000 genomes]
rs4873446	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4873463	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4873478	0.88[EUR][1000 genomes]
rs4873546	0.85[EUR][1000 genomes]
rs6986054	0.85[EUR][1000 genomes]
rs7462209	0.82[EUR][1000 genomes]
rs7825148	0.87[ASN][1000 genomes]
rs7827571	0.83[EUR][1000 genomes]
rs7842068	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1025674	chr8:48306843-48548862	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1023409	chr8:48320442-48454089	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv539595	chr8:48320442-48454089	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv890848	chr8:48405007-48535622	Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv470211	chr8:48405007-48545961	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48394200-48419800	Weak transcription	Pancreas	Pancrea
2	chr8:48397600-48419400	Weak transcription	Primary T cells from cord blood	blood
3	chr8:48397600-48426400	Weak transcription	Aorta	Aorta
4	chr8:48397800-48417600	Weak transcription	Gastric	stomach
5	chr8:48397800-48418200	Weak transcription	Dnd41	blood
6	chr8:48398200-48417400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:48398200-48420000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:48398200-48421600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:48398600-48417600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:48398800-48423400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:48401400-48417400	Weak transcription	Fetal Intestine Small	intestine
12	chr8:48402200-48417600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr8:48404800-48421200	Weak transcription	Lung	lung
14	chr8:48407800-48415000	Weak transcription	GM12878-XiMat	blood
15	chr8:48407800-48418600	Weak transcription	Primary B cells from peripheral blood	blood
16	chr8:48410600-48420800	Weak transcription	Brain Hippocampus Middle	brain
17	chr8:48410600-48424000	Weak transcription	Brain Angular Gyrus	brain
18	chr8:48410800-48421600	Weak transcription	HSMM	muscle
19	chr8:48411000-48420600	Weak transcription	Fetal Brain Male	brain
20	chr8:48411400-48417600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:48411400-48420000	Weak transcription	HMEC	breast
22	chr8:48411600-48424000	Weak transcription	Fetal Kidney	kidney
23	chr8:48411800-48417600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr8:48411800-48419800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:48411800-48420600	Weak transcription	Colon Smooth Muscle	Colon
26	chr8:48411800-48423400	Weak transcription	A549	lung
27	chr8:48411800-48423400	Weak transcription	Hela-S3	cervix
28	chr8:48411800-48423800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr8:48412000-48416200	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr8:48412000-48417400	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr8:48412000-48419600	Weak transcription	HSMMtube	muscle
32	chr8:48412000-48421600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr8:48412000-48421600	Weak transcription	Fetal Lung	lung

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