Variant report

Variant	rs11183136
Chromosome Location	chr12:46005942-46005943
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	FOSL2	chr12:46005795-46006319	SK-N-SH	brain:	n/a	n/a
2	PBX3	chr12:46005796-46006379	SK-N-SH	brain:	n/a	chr12:46006321-46006330
3	JUN	chr12:46005811-46006298	HUVEC	blood vessel:	n/a	n/a
4	STAT3	chr12:46005928-46006134	MCF10A-Er-Src	breast:	n/a	n/a
5	GATA3	chr12:46005776-46006323	SK-N-SH	brain:	n/a	n/a
6	GATA2	chr12:46005742-46006320	HUVEC	blood vessel:	n/a	n/a
7	FOS	chr12:46005939-46006130	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr12:46005923-46006188	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr12:46005753-46006399	HUVEC	blood vessel:	n/a	n/a
10	TCF12	chr12:46005785-46006356	SK-N-SH	brain:	n/a	n/a
11	GATA3	chr12:46005784-46006373	SK-N-SH	brain:	n/a	n/a
12	FOS	chr12:46005595-46006374	HUVEC	blood vessel:	n/a	n/a
13	STAT3	chr12:46005929-46006191	MCF10A-Er-Src	breast:	n/a	chr12:46006172-46006179

Variant related genes	Relation type
ENSG00000257657	TF binding region

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10880858	1.00[EUR][1000 genomes]
rs11183020	1.00[EUR][1000 genomes]
rs11183108	1.00[EUR][1000 genomes]
rs11183109	1.00[EUR][1000 genomes]
rs11183135	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11183197	1.00[EUR][1000 genomes]
rs11183199	1.00[EUR][1000 genomes]
rs11183202	1.00[EUR][1000 genomes]
rs12296933	1.00[EUR][1000 genomes]
rs12297214	1.00[EUR][1000 genomes]
rs12298597	1.00[EUR][1000 genomes]
rs12299652	1.00[EUR][1000 genomes]
rs12299715	1.00[EUR][1000 genomes]
rs12301665	1.00[EUR][1000 genomes]
rs12302862	1.00[EUR][1000 genomes]
rs12309988	1.00[EUR][1000 genomes]
rs12312478	1.00[EUR][1000 genomes]
rs12313957	1.00[EUR][1000 genomes]
rs12316100	1.00[EUR][1000 genomes]
rs12316726	1.00[EUR][1000 genomes]
rs12318053	1.00[EUR][1000 genomes]
rs12321106	1.00[EUR][1000 genomes]
rs28583490	1.00[EUR][1000 genomes]
rs4522236	1.00[EUR][1000 genomes]
rs55916269	1.00[EUR][1000 genomes]
rs56338250	1.00[EUR][1000 genomes]
rs58253063	1.00[EUR][1000 genomes]
rs59027429	1.00[EUR][1000 genomes]
rs59340060	1.00[EUR][1000 genomes]
rs6582560	1.00[EUR][1000 genomes]
rs6582575	1.00[EUR][1000 genomes]
rs7132585	1.00[EUR][1000 genomes]
rs7133123	1.00[EUR][1000 genomes]
rs7308856	1.00[EUR][1000 genomes]
rs7308893	1.00[EUR][1000 genomes]
rs7309921	1.00[EUR][1000 genomes]
rs7315365	1.00[EUR][1000 genomes]
rs74081382	1.00[EUR][1000 genomes]
rs74081384	1.00[EUR][1000 genomes]
rs74081401	1.00[EUR][1000 genomes]
rs74084208	1.00[EUR][1000 genomes]
rs7953515	1.00[EUR][1000 genomes]
rs7964495	1.00[EUR][1000 genomes]
rs7973967	1.00[EUR][1000 genomes]
rs7975170	1.00[EUR][1000 genomes]
rs7975408	1.00[EUR][1000 genomes]
rs7977711	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832395	chr12:45841765-46039297	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2751099	chr12:45960118-46043633	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46004200-46006000	Weak transcription	NHDF-Ad	bronchial
2	chr12:46004800-46006000	Enhancers	HUVEC	blood vessel
3	chr12:46004800-46007600	Enhancers	Muscle Satellite Cultured Cells	--
4	chr12:46005000-46006000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:46005200-46006200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:46005400-46006000	Enhancers	GM12878-XiMat	blood
7	chr12:46005400-46006200	Enhancers	NHLF	lung
8	chr12:46005400-46006400	Enhancers	Osteobl	bone
9	chr12:46005400-46007000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:46005400-46007200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:46005400-46007200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:46005400-46007400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr12:46005400-46007600	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr12:46005400-46007800	Weak transcription	Brain Hippocampus Middle	brain
15	chr12:46005400-46009000	Weak transcription	NH-A	brain
16	chr12:46005400-46009400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:46005400-46009400	Weak transcription	NHEK	skin
18	chr12:46005400-46011800	Weak transcription	Right Atrium	heart
19	chr12:46005600-46006000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:46005600-46006000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:46005600-46008200	Weak transcription	Brain Anterior Caudate	brain
22	chr12:46005600-46009200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr12:46005800-46006400	Enhancers	Hela-S3	cervix

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