Variant report

Variant	rs10843222
Chromosome Location	chr12:9394066-9394067
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr12:9393840-9394205	HepG2	liver:	n/a	n/a
2	HNF4G	chr12:9393964-9394256	HepG2	liver:	n/a	chr12:9394066-9394081
3	POLR2A	chr12:9394042-9394114	GM12878	blood:	n/a	n/a
4	EP300	chr12:9393868-9394320	HepG2	liver:	n/a	n/a
5	HNF4A	chr12:9393927-9394161	HepG2	liver:	n/a	n/a
6	FOXA2	chr12:9393918-9394299	HepG2	liver:	n/a	n/a
7	RCOR1	chr12:9393920-9394120	HepG2	liver:	n/a	n/a
8	FOXA1	chr12:9393862-9394276	HepG2	liver:	n/a	n/a
9	FOXA1	chr12:9393968-9394289	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
PTMAP4	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10843223	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11049781	0.90[ASN][1000 genomes]
rs11049845	0.87[JPT][hapmap];1.00[YRI][hapmap]
rs12303039	0.81[JPT][hapmap]
rs12369816	1.00[YRI][hapmap];0.90[ASN][1000 genomes]
rs2059759	0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs3741847	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3741848	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7954451	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045317	chr12:9113216-9544655	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	nsv1048491	chr12:9208806-9544655	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS 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	35 gene(s)	inside rSNPs	diseases
3	nsv527404	chr12:9250601-9435244	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv523958	chr12:9303440-9549072	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
5	nsv557355	chr12:9309995-9529015	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
6	nsv1035953	chr12:9314481-9544655	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
7	nsv427903	chr12:9371593-9830668	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
8	esv2758293	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
9	esv2759878	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
10	nsv1048917	chr12:9393282-9436132	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10843222	RP11-22B23.1	cis	Artery Tibial	GTEx
rs10843222	DDX12P	cis	Muscle Skeletal	GTEx
rs10843222	RP11-22B23.1	cis	lung	GTEx
rs10843222	DDX12P	cis	Artery Tibial	GTEx

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9392600-9394200	Active TSS	Brain Cingulate Gyrus	brain
2	chr12:9393200-9395400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr12:9393200-9395800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:9393200-9396800	Weak transcription	Psoas Muscle	Psoas
5	chr12:9393200-9397400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:9393200-9397400	Weak transcription	Pancreas	Pancrea
7	chr12:9393200-9397400	Weak transcription	Right Ventricle	heart
8	chr12:9393400-9397400	Weak transcription	HMEC	breast
9	chr12:9393400-9398200	Enhancers	HepG2	liver
10	chr12:9393600-9395000	Enhancers	Brain Angular Gyrus	brain
11	chr12:9393600-9408200	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr12:9393600-9411400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr12:9393800-9394200	Flanking Active TSS	Brain Hippocampus Middle	brain
14	chr12:9393800-9394200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:9393800-9394200	Enhancers	Brain Substantia Nigra	brain
16	chr12:9393800-9394400	Enhancers	Liver	Liver
17	chr12:9393800-9394600	ZNF genes & repeats	Fetal Lung	lung
18	chr12:9393800-9394600	Enhancers	Right Atrium	heart
19	chr12:9394000-9394200	Flanking Active TSS	Brain Anterior Caudate	brain
20	chr12:9394000-9394200	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr12:9394000-9394200	Active TSS	Left Ventricle	heart
22	chr12:9394000-9394400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr12:9394000-9394800	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr12:9394000-9394800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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