Variant report

Variant	rs60881181
Chromosome Location	chr12:9394288-9394289
allele	A/G
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	EP300	chr12:9393868-9394320	HepG2	liver:	n/a	n/a
2	FOXA2	chr12:9393918-9394299	HepG2	liver:	n/a	n/a
3	FOXA1	chr12:9393968-9394289	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000256427	TF binding region
PTMAP4	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs56972374	1.00[AMR][1000 genomes]
rs57131987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57188552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57211812	1.00[AMR][1000 genomes]
rs59729140	1.00[AMR][1000 genomes]
rs73236979	1.00[AMR][1000 genomes]
rs73236988	1.00[AMR][1000 genomes]
rs73236992	1.00[AMR][1000 genomes]
rs73236994	1.00[AMR][1000 genomes]
rs73237001	1.00[AMR][1000 genomes]
rs73239004	1.00[AMR][1000 genomes]
rs73239006	1.00[AMR][1000 genomes]
rs73239037	1.00[AMR][1000 genomes]
rs73239069	1.00[AMR][1000 genomes]
rs73239086	1.00[AMR][1000 genomes]
rs73240709	1.00[AMR][1000 genomes]
rs73240714	1.00[AMR][1000 genomes]
rs73240719	1.00[AMR][1000 genomes]
rs73251394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251400	0.82[AFR][1000 genomes];1.00[AMR][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

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9393200-9395400	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr12:9393200-9395800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:9393200-9396800	Weak transcription	Psoas Muscle	Psoas
4	chr12:9393200-9397400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:9393200-9397400	Weak transcription	Pancreas	Pancrea
6	chr12:9393200-9397400	Weak transcription	Right Ventricle	heart
7	chr12:9393400-9397400	Weak transcription	HMEC	breast
8	chr12:9393400-9398200	Enhancers	HepG2	liver
9	chr12:9393600-9395000	Enhancers	Brain Angular Gyrus	brain
10	chr12:9393600-9408200	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr12:9393600-9411400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr12:9393800-9394400	Enhancers	Liver	Liver
13	chr12:9393800-9394600	ZNF genes & repeats	Fetal Lung	lung
14	chr12:9393800-9394600	Enhancers	Right Atrium	heart
15	chr12:9394000-9394400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr12:9394000-9394800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr12:9394000-9394800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:9394200-9395400	Enhancers	Brain Anterior Caudate	brain
19	chr12:9394200-9395800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr12:9394200-9395800	Weak transcription	Brain Substantia Nigra	brain
21	chr12:9394200-9397200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr12:9394200-9397800	Enhancers	Brain Hippocampus Middle	brain

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