Variant report

Variant	rs533465252
Chromosome Location	chr2:12173365-12173366
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	POLR2A	chr2:12171335-12176486	GM12891	blood:	n/a	n/a
2	TEAD4	chr2:12173088-12173500	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr2:12171416-12174858	Raji	blood:	n/a	n/a
4	FOS	chr2:12173116-12173380	MCF10A-Er-Src	breast:	n/a	chr2:12173249-12173257 chr2:12173245-12173256 chr2:12173250-12173257 chr2:12173249-12173257
5	FOXA1	chr2:12173047-12173383	HepG2	liver:	n/a	n/a
6	E2F6	chr2:12173118-12173686	A549	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000238503	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv999704	chr2:12153766-12243960	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1005069	chr2:12161023-12242734	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1000696	chr2:12162843-12241022	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv3511188	chr2:12173235-12173427	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
6	esv3511189	chr2:12173290-12173377	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:12171200-12178000	Enhancers	Primary B cells from peripheral blood	blood
2	chr2:12171400-12173600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:12171600-12173400	Flanking Active TSS	GM12878-XiMat	blood
4	chr2:12172000-12173400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr2:12172200-12174000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:12172200-12174000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:12172200-12174200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:12172200-12176000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr2:12172400-12173800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:12172400-12174400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr2:12172400-12175800	Weak transcription	K562	blood
12	chr2:12172600-12173400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:12172600-12173800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:12172600-12173800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:12172600-12173800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:12172600-12173800	Enhancers	HSMM	muscle
17	chr2:12172600-12174000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:12172600-12174000	Enhancers	NHLF	lung
19	chr2:12172600-12174200	Enhancers	NHDF-Ad	bronchial
20	chr2:12172800-12173400	Enhancers	A549	lung
21	chr2:12172800-12173400	Weak transcription	HSMMtube	muscle
22	chr2:12172800-12174000	Enhancers	Muscle Satellite Cultured Cells	--
23	chr2:12172800-12175400	Weak transcription	Ovary	ovary
24	chr2:12172800-12176000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:12173000-12173400	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr2:12173000-12174000	Enhancers	Osteobl	bone
27	chr2:12173200-12173600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:12173200-12174000	Enhancers	NH-A	brain

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