Variant report

Variant	rs73297553
Chromosome Location	chr12:47674618-47674619
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	GATA1	chr12:47674470-47676267	PBDE	blood:	n/a	chr12:47675850-47675860 chr12:47675850-47675857 chr12:47675601-47675610

Variant related genes	Relation type
ENSG00000257925	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11183817	1.00[AMR][1000 genomes]
rs12296357	1.00[AMR][1000 genomes]
rs12296625	1.00[AMR][1000 genomes]
rs12297876	1.00[AMR][1000 genomes]
rs12298308	1.00[AMR][1000 genomes]
rs12322626	1.00[AMR][1000 genomes]
rs73293898	1.00[AMR][1000 genomes]
rs73297554	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	nsv469368	chr12:47374908-47675680	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv558784	chr12:47374908-47675680	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv832399	chr12:47502910-47689601	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2751100	chr12:47541390-47746157	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47665000-47675400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:47668600-47675800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:47671800-47676200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:47672000-47676000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:47672000-47677800	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr12:47672600-47675600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:47672800-47674800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:47672800-47674800	Weak transcription	Osteobl	bone
9	chr12:47672800-47675400	Weak transcription	NHDF-Ad	bronchial
10	chr12:47672800-47676000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr12:47672800-47676800	Enhancers	HSMMtube	muscle
12	chr12:47672800-47680200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:47673000-47674800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:47673000-47675600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:47673000-47676200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr12:47673400-47675400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr12:47673400-47675800	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr12:47674000-47675800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:47674000-47676200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:47674000-47677000	Weak transcription	Hela-S3	cervix
21	chr12:47674200-47675200	Enhancers	Primary T cells fromperipheralblood	blood
22	chr12:47674200-47676000	Enhancers	HMEC	breast
23	chr12:47674200-47676800	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr12:47674200-47677800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr12:47674400-47674800	Enhancers	Pancreas	Pancrea
26	chr12:47674400-47674800	Enhancers	Stomach Mucosa	stomach
27	chr12:47674400-47675000	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr12:47674400-47675000	Genic enhancers	NHEK	skin
29	chr12:47674400-47675600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:47674400-47677000	Enhancers	HSMM	muscle
31	chr12:47674400-47677000	Enhancers	K562	blood
32	chr12:47674400-47677000	Enhancers	NH-A	brain
33	chr12:47674600-47674800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr12:47674600-47674800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr12:47674600-47674800	Enhancers	Primary T cells from cord blood	blood
36	chr12:47674600-47674800	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr12:47674600-47674800	Enhancers	Muscle Satellite Cultured Cells	--
38	chr12:47674600-47675000	Enhancers	Lung	lung
39	chr12:47674600-47676400	Genic enhancers	A549	lung

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