Variant report

Variant	rs1369451
Chromosome Location	chr8:131892909-131892910
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10098645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10098660	1.00[ASN][1000 genomes]
rs10956557	0.88[EUR][1000 genomes]
rs11777032	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11779887	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11780690	0.83[EUR][1000 genomes]
rs11782328	0.88[EUR][1000 genomes]
rs12155610	0.83[EUR][1000 genomes]
rs13257796	0.90[EUR][1000 genomes]
rs13261396	0.83[EUR][1000 genomes]
rs1369450	1.00[ASN][1000 genomes]
rs1435449	1.00[ASN][1000 genomes]
rs1560985	1.00[ASN][1000 genomes]
rs17248206	0.91[EUR][1000 genomes]
rs17326441	0.83[EUR][1000 genomes]
rs2014815	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28536655	0.85[EUR][1000 genomes]
rs34950289	0.86[EUR][1000 genomes]
rs35981604	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56293105	0.83[EUR][1000 genomes]
rs72714450	0.83[EUR][1000 genomes]
rs7460331	0.90[EUR][1000 genomes]
rs7838870	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7842798	0.98[ASN][1000 genomes]
rs7842857	0.85[EUR][1000 genomes]
rs7843127	0.86[EUR][1000 genomes]
rs976268	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv612294	chr8:131645079-131923377	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv891448	chr8:131668278-131968469	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv831462	chr8:131704119-131895793	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1034107	chr8:131740146-131985765	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv539747	chr8:131740146-131985765	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1030881	chr8:131801472-132654822	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1369451	ADCY8	cis	parietal	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131891000-131895800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:131892200-131893000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:131892200-131893600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:131892200-131893800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr8:131892400-131893000	Enhancers	NH-A	brain
6	chr8:131892400-131893600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:131892400-131893600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:131892400-131893600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:131892400-131893800	Enhancers	HMEC	breast
10	chr8:131892400-131893800	Enhancers	NHDF-Ad	bronchial
11	chr8:131892600-131893600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:131892600-131893800	Enhancers	HSMM	muscle
13	chr8:131892600-131893800	Enhancers	NHLF	lung
14	chr8:131892600-131894400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr8:131892800-131893200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:131892800-131893200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:131892800-131893200	Flanking Active TSS	Osteobl	bone
18	chr8:131892800-131893600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:131892800-131893800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links