Variant report

Variant	rs11043284
Chromosome Location	chr12:122439325-122439326
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	MYC	chr12:122439306-122439705	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr12:122439298-122439651	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr12:122439272-122439722	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122437989..122441020-chr12:122459413..122461657,5	MCF-7	breast:

Variant related genes	Relation type
WDR66	TF binding region
ENSG00000110987	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11043248	1.00[AMR][1000 genomes]
rs11043262	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11043274	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122422800-122442600	Weak transcription	Fetal Kidney	kidney
2	chr12:122430400-122441000	Weak transcription	HSMMtube	muscle
3	chr12:122430400-122441600	Weak transcription	Primary T cells from cord blood	blood
4	chr12:122431000-122442000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr12:122435000-122440600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr12:122435200-122439400	Weak transcription	Brain Hippocampus Middle	brain
7	chr12:122435200-122441200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:122435200-122441600	Weak transcription	Osteobl	bone
9	chr12:122435200-122442400	Weak transcription	Pancreas	Pancrea
10	chr12:122435400-122440600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:122435400-122441800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:122435800-122441000	Weak transcription	Primary B cells from cord blood	blood
13	chr12:122436000-122439400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:122438000-122441400	Weak transcription	NHLF	lung
15	chr12:122438000-122444400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:122438200-122439600	Weak transcription	Thymus	Thymus
17	chr12:122438200-122441600	Weak transcription	Spleen	Spleen
18	chr12:122438600-122439600	Enhancers	Primary B cells from peripheral blood	blood
19	chr12:122438600-122439800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:122438600-122440000	Genic enhancers	Fetal Thymus	thymus
21	chr12:122438600-122443600	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr12:122438800-122439800	Enhancers	HMEC	breast
23	chr12:122438800-122440800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:122439000-122439400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:122439000-122439400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:122439000-122439800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:122439200-122439400	Genic enhancers	Brain Anterior Caudate	brain
28	chr12:122439200-122439600	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr12:122439200-122439800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:122439200-122439800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:122439200-122439800	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr12:122439200-122440000	Enhancers	NHEK	skin

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