Variant report

Variant	rs11182811
Chromosome Location	chr12:45444264-45444265
allele	C/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	CTBP2	chr12:45443795-45445560	H1-hESC	embryonic stem cell:	n/a	n/a
2	ZNF143	chr12:45443932-45444851	H1-hESC	embryonic stem cell:	n/a	chr12:45444225-45444235 chr12:45444270-45444280
3	CHD1	chr12:45443837-45444435	H1-hESC	embryonic stem cell:	n/a	n/a
4	NANOG	chr12:45444225-45444584	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr12:45444181-45444879	H1-hESC	embryonic stem cell:	n/a	n/a
6	TBP	chr12:45444062-45444547	H1-hESC	embryonic stem cell:	n/a	n/a
7	SIN3A	chr12:45443931-45445486	H1-hESC	embryonic stem cell:	n/a	chr12:45444855-45444868 chr12:45444724-45444735 chr12:45444769-45444782

Variant related genes	Relation type
ENSG00000257319	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10880718	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10880730	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182801	0.83[ASN][1000 genomes]
rs11182810	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1118481	0.81[ASN][1000 genomes]
rs1224436	0.86[EUR][1000 genomes]
rs1495033	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1495034	0.86[EUR][1000 genomes]
rs1495035	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1495036	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1495042	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1857926	0.80[EUR][1000 genomes]
rs2408140	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2544102	0.83[EUR][1000 genomes]
rs2643140	0.83[EUR][1000 genomes]
rs2731040	0.82[EUR][1000 genomes]
rs2731053	0.83[EUR][1000 genomes]
rs2731054	0.83[EUR][1000 genomes]
rs4140696	0.88[EUR][1000 genomes]
rs4285943	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4561266	0.86[EUR][1000 genomes]
rs7964973	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7966458	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3351644	chr12:45345597-45529449	Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1045857	chr12:45351172-45468784	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv541485	chr12:45351172-45468784	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11182811	RP11-478B9.2	cis	Skin Sun Exposed Lower leg	GTEx
rs11182811	DBX2	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45441400-45445400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr12:45442400-45445000	Active TSS	Cortex derived primary cultured neurospheres	brain
3	chr12:45443000-45445600	Active TSS	Right Atrium	heart
4	chr12:45443400-45444400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
5	chr12:45443400-45445600	Active TSS	Brain Anterior Caudate	brain
6	chr12:45443400-45445600	Active TSS	Brain Cingulate Gyrus	brain
7	chr12:45443400-45445800	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr12:45443400-45446000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr12:45443600-45445600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr12:45443600-45445800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr12:45443800-45444400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:45443800-45444400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
13	chr12:45443800-45444400	Active TSS	Pancreas	Pancrea
14	chr12:45443800-45445000	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
15	chr12:45443800-45445400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:45443800-45445600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:45443800-45445600	Bivalent Enhancer	Liver	Liver
18	chr12:45443800-45445800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:45444000-45444400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
20	chr12:45444000-45444400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
21	chr12:45444000-45444400	Flanking Bivalent TSS/Enh	Right Ventricle	heart
22	chr12:45444000-45444400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
23	chr12:45444000-45444600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:45444000-45444600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
25	chr12:45444000-45444800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr12:45444000-45444800	Active TSS	Brain Substantia Nigra	brain
27	chr12:45444000-45445000	Bivalent Enhancer	Fetal Brain Male	brain
28	chr12:45444000-45445200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr12:45444000-45445400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:45444000-45445600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:45444000-45445800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
32	chr12:45444000-45445800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
33	chr12:45444000-45445800	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr12:45444000-45445800	Active TSS	Brain Angular Gyrus	brain
35	chr12:45444200-45444400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr12:45444200-45444400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
37	chr12:45444200-45444400	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
38	chr12:45444200-45444400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
39	chr12:45444200-45444400	Bivalent Enhancer	Placenta	Placenta
40	chr12:45444200-45444400	Flanking Bivalent TSS/Enh	Left Ventricle	heart
41	chr12:45444200-45444400	Bivalent Enhancer	HMEC	breast
42	chr12:45444200-45444600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:45444200-45444600	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
44	chr12:45444200-45444600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
45	chr12:45444200-45444800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:45444200-45444800	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr12:45444200-45444800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
48	chr12:45444200-45444800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
49	chr12:45444200-45445000	Bivalent/Poised TSS	Aorta	Aorta
50	chr12:45444200-45445000	Bivalent Enhancer	Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links