Variant report

Variant	rs9883363
Chromosome Location	chr3:113548230-113548231
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12631130	0.81[ASN][1000 genomes]
rs35494857	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35725939	0.83[ASN][1000 genomes]
rs66482840	0.81[ASN][1000 genomes]
rs7632377	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7636168	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7646203	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9990079	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][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	nsv1013506	chr3:112890608-113680951	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv482804	chr3:113432431-113581672	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv829678	chr3:113446177-113633053	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv877351	chr3:113450495-113637424	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1013746	chr3:113460162-113646657	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv432478	chr3:113492402-113614489	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv460822	chr3:113543081-113600970	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv591302	chr3:113543081-113600970	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs9883363	GRAMD1C	cis	Artery Tibial	GTEx
rs9883363	GRAMD1C	cis	Artery Aorta	GTEx
rs9883363	GRAMD1C	cis	Esophagus Muscularis	GTEx
rs9883363	GRAMD1C	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:113525400-113548600	Weak transcription	NHLF	lung
2	chr3:113539000-113549000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:113544000-113548600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr3:113544200-113548600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:113544200-113548600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:113544200-113548600	Weak transcription	HMEC	breast
7	chr3:113544200-113549400	Weak transcription	Stomach Mucosa	stomach
8	chr3:113544400-113548600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr3:113544400-113548800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr3:113544400-113548800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr3:113546800-113550000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr3:113546800-113550000	Enhancers	Primary B cells from peripheral blood	blood
13	chr3:113546800-113550200	Flanking Active TSS	GM12878-XiMat	blood
14	chr3:113547200-113549000	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr3:113547200-113549200	Enhancers	Primary B cells from cord blood	blood
16	chr3:113548000-113549000	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr3:113548000-113549400	Enhancers	Primary hematopoietic stem cells	blood
18	chr3:113548200-113548600	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr3:113548200-113551200	Enhancers	HUVEC	blood vessel

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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