Variant report

Variant	rs11832684
Chromosome Location	chr12:117097805-117097806
allele	C/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	GATA3	chr12:117097418-117098218	MCF-7	breast:	n/a	chr12:117097749-117097756 chr12:117097747-117097757 chr12:117097749-117097756 chr12:117097749-117097756 chr12:117097744-117097760 chr12:117097747-117097756 chr12:117097742-117097763
2	POLR2A	chr12:117097601-117097875	HCT-116	colon:	n/a	n/a
3	FOSL2	chr12:117097497-117098068	SK-N-SH	brain:	n/a	chr12:117097687-117097699
4	NR2F2	chr12:117097462-117098071	MCF-7	breast:	n/a	n/a
5	FOS	chr12:117097576-117097890	MCF10A-Er-Src	breast:	n/a	chr12:117097687-117097699
6	PBX3	chr12:117097495-117098122	SK-N-SH	brain:	n/a	n/a
7	JUND	chr12:117097408-117098133	HCT-116	colon:	n/a	chr12:117097687-117097699
8	FOSL2	chr12:117097546-117097940	SK-N-SH	brain:	n/a	chr12:117097687-117097699
9	PBX3	chr12:117097393-117098143	SK-N-SH	brain:	n/a	n/a
10	GATA3	chr12:117097339-117098349	SK-N-SH	brain:	n/a	chr12:117097749-117097756 chr12:117097747-117097757 chr12:117097749-117097756 chr12:117097749-117097756 chr12:117097744-117097760 chr12:117097747-117097756 chr12:117097742-117097763
11	TCF7L2	chr12:117097562-117098117	Hela-S3	cervix:	n/a	chr12:117097762-117097776
12	JUND	chr12:117097423-117098133	SK-N-SH	brain:	n/a	chr12:117097687-117097699
13	GATA3	chr12:117097651-117097951	SH-SY5Y	brain:	n/a	chr12:117097749-117097756 chr12:117097747-117097757 chr12:117097749-117097756 chr12:117097749-117097756 chr12:117097744-117097760 chr12:117097747-117097756 chr12:117097742-117097763
14	POLR2A	chr12:117097599-117097947	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr12:117097516-117097950	PANC-1	pancreas:	n/a	n/a
16	JUND	chr12:117097432-117098086	SK-N-SH	brain:	n/a	chr12:117097687-117097699
17	NR2F2	chr12:117097513-117097973	MCF-7	breast:	n/a	n/a
18	PAX5	chr12:117097561-117097854	GM12878	blood:	n/a	chr12:117097704-117097722 chr12:117097706-117097723
19	NFIC	chr12:117097348-117098166	SK-N-SH	brain:	n/a	n/a
20	TCF12	chr12:117097393-117098210	SK-N-SH	brain:	n/a	n/a
21	SIN3AK20	chr12:117097387-117098097	MCF-7	breast:	n/a	n/a
22	PAX5	chr12:117097545-117097884	GM12878	blood:	n/a	chr12:117097704-117097722 chr12:117097706-117097723
23	NFYB	chr12:117097671-117097920	Hela-S3	cervix:	n/a	n/a
24	FOS	chr12:117097582-117097904	MCF10A-Er-Src	breast:	n/a	chr12:117097687-117097699
25	GATA3	chr12:117097638-117097958	T-47D	breast:	n/a	chr12:117097749-117097756 chr12:117097747-117097757 chr12:117097749-117097756 chr12:117097749-117097756 chr12:117097744-117097760 chr12:117097747-117097756 chr12:117097742-117097763
26	GATA3	chr12:117097343-117098178	A549	lung:	n/a	chr12:117097749-117097756 chr12:117097747-117097757 chr12:117097749-117097756 chr12:117097749-117097756 chr12:117097744-117097760 chr12:117097747-117097756 chr12:117097742-117097763
27	TCF12	chr12:117097449-117098011	SK-N-SH	brain:	n/a	n/a
28	JUND	chr12:117097371-117097973	HCT-116	colon:	n/a	chr12:117097687-117097699
29	GATA2	chr12:117097580-117098320	SH-SY5Y	brain:	n/a	chr12:117097749-117097756 chr12:117097747-117097757 chr12:117097749-117097756 chr12:117097749-117097756 chr12:117097744-117097760 chr12:117097747-117097756 chr12:117097742-117097763
30	EP300	chr12:117097490-117098091	SK-N-SH	brain:	n/a	n/a
31	FOS	chr12:117097671-117097916	MCF10A-Er-Src	breast:	n/a	chr12:117097687-117097699
32	TCF7L2	chr12:117097520-117098246	PANC-1	pancreas:	n/a	chr12:117097762-117097776
33	FOSL1	chr12:117097410-117098142	HCT-116	colon:	n/a	chr12:117097687-117097699
34	PAX5	chr12:117097576-117097857	GM12878	blood:	n/a	chr12:117097704-117097722 chr12:117097706-117097723
35	NFIC	chr12:117097484-117098062	SK-N-SH	brain:	n/a	n/a
36	GATA3	chr12:117097408-117098192	MCF-7	breast:	n/a	chr12:117097749-117097756 chr12:117097747-117097757 chr12:117097749-117097756 chr12:117097749-117097756 chr12:117097744-117097760 chr12:117097747-117097756 chr12:117097742-117097763
37	SP1	chr12:117097380-117098168	HCT-116	colon:	n/a	n/a
38	FOSL1	chr12:117097385-117098098	HCT-116	colon:	n/a	chr12:117097687-117097699
39	TCF7L2	chr12:117097484-117097968	MCF-7	breast:	n/a	chr12:117097762-117097776
40	TCF7L2	chr12:117097542-117098121	HCT-116	colon:	n/a	chr12:117097762-117097776
41	GATA3	chr12:117097564-117098070	MCF-7	breast:	n/a	chr12:117097749-117097756 chr12:117097747-117097757 chr12:117097749-117097756 chr12:117097749-117097756 chr12:117097744-117097760 chr12:117097747-117097756 chr12:117097742-117097763
42	GATA3	chr12:117097450-117098234	SK-N-SH	brain:	n/a	chr12:117097749-117097756 chr12:117097747-117097757 chr12:117097749-117097756 chr12:117097749-117097756 chr12:117097744-117097760 chr12:117097747-117097756 chr12:117097742-117097763

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117095945..117098090-chr12:117099384..117101804,2	K562	blood:
2	chr12:117094883..117097893-chr12:117100651..117103499,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257883	TF binding region
ENSG00000257883	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11829280	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11832667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11836478	0.82[EUR][1000 genomes]
rs11837489	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35778098	0.82[EUR][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	esv1794859	chr12:117087267-117103935	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv832523	chr12:117090343-117273810	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	esv3357908	chr12:117097394-117099942	Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117093800-117100600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:117094200-117098000	Weak transcription	Lung	lung
3	chr12:117095600-117098600	Enhancers	Fetal Thymus	thymus
4	chr12:117095800-117098200	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr12:117095800-117098200	Enhancers	Placenta	Placenta
6	chr12:117095800-117098400	Enhancers	Fetal Brain Male	brain
7	chr12:117096200-117098200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr12:117096400-117100200	Weak transcription	Left Ventricle	heart
9	chr12:117096400-117100200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:117096600-117098000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:117096600-117098000	Enhancers	Fetal Muscle Leg	muscle
12	chr12:117096600-117099800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr12:117096600-117100200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr12:117096600-117100200	Weak transcription	Brain Germinal Matrix	brain
15	chr12:117096600-117103200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:117096800-117098000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:117096800-117098000	Enhancers	Stomach Mucosa	stomach
18	chr12:117096800-117098000	Enhancers	Thymus	Thymus
19	chr12:117096800-117098200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr12:117096800-117098200	Enhancers	Ovary	ovary
21	chr12:117096800-117098200	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr12:117096800-117098400	Enhancers	A549	lung
23	chr12:117096800-117098400	Enhancers	HepG2	liver
24	chr12:117096800-117099200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr12:117096800-117099800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr12:117096800-117099800	Weak transcription	Fetal Intestine Large	intestine
27	chr12:117096800-117099800	Weak transcription	Fetal Intestine Small	intestine
28	chr12:117096800-117100000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr12:117096800-117100000	Weak transcription	Brain Substantia Nigra	brain
30	chr12:117096800-117100200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr12:117096800-117100200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr12:117096800-117100200	Weak transcription	Right Ventricle	heart
33	chr12:117096800-117100400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr12:117096800-117100400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr12:117096800-117100400	Weak transcription	Brain Anterior Caudate	brain
36	chr12:117096800-117100400	Weak transcription	HSMM	muscle
37	chr12:117096800-117100600	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr12:117097000-117098000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr12:117097000-117098000	Enhancers	Muscle Satellite Cultured Cells	--
40	chr12:117097000-117098000	Weak transcription	Brain Hippocampus Middle	brain
41	chr12:117097000-117098000	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr12:117097000-117098200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr12:117097000-117098200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:117097000-117098200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:117097000-117098200	Enhancers	Adipose Nuclei	Adipose
46	chr12:117097000-117098200	Enhancers	NHDF-Ad	bronchial
47	chr12:117097000-117098200	Enhancers	Osteobl	bone
48	chr12:117097000-117098400	Enhancers	Liver	Liver
49	chr12:117097000-117098400	Enhancers	Hela-S3	cervix
50	chr12:117097000-117098400	Enhancers	NHLF	lung

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