Variant report

Variant	rs73340267
Chromosome Location	chr12:58246298-58246299
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:58234916..58238373-chr12:58245193..58248613,3	K562	blood:
2	chr12:58245905..58248247-chr12:58284450..58287100,2	MCF-7	breast:
3	chr12:58246108..58247683-chr12:58289253..58290779,2	MCF-7	breast:
4	chr12:58243942..58248184-chr12:58281468..58284195,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000245651	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs28704571	1.00[AMR][1000 genomes]
rs4760331	1.00[AMR][1000 genomes]
rs56218802	1.00[AMR][1000 genomes]
rs73338256	1.00[AMR][1000 genomes]
rs73340215	1.00[AMR][1000 genomes]
rs73340232	1.00[AMR][1000 genomes]
rs73340240	1.00[AMR][1000 genomes]
rs73340266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73342234	1.00[AMR][1000 genomes]
rs73344379	1.00[AMR][1000 genomes]
rs73344382	1.00[AMR][1000 genomes]
rs73344386	1.00[AMR][1000 genomes]
rs73344388	1.00[AMR][1000 genomes]
rs73346380	1.00[AMR][1000 genomes]
rs73348214	1.00[AMR][1000 genomes]
rs73348217	1.00[AMR][1000 genomes]
rs7956170	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559046	chr12:58162085-58478598	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	261 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58243200-58250200	Weak transcription	K562	blood
2	chr12:58244000-58247600	Enhancers	Spleen	Spleen
3	chr12:58244200-58246400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
4	chr12:58244400-58246800	Bivalent Enhancer	GM12878-XiMat	blood
5	chr12:58244400-58247000	Enhancers	Fetal Heart	heart
6	chr12:58244400-58247200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr12:58244400-58248000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr12:58244400-58248400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:58244800-58246600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:58245000-58246400	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr12:58245000-58246400	Enhancers	A549	lung
12	chr12:58245000-58246800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr12:58245600-58247600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr12:58245800-58246400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:58245800-58246400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:58245800-58246400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
17	chr12:58245800-58246600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
18	chr12:58245800-58247000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:58245800-58247200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
20	chr12:58245800-58247600	Flanking Active TSS	Stomach Smooth Muscle	stomach
21	chr12:58246000-58246400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr12:58246000-58246400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr12:58246000-58246400	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
24	chr12:58246000-58246400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:58246000-58246400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:58246000-58246400	Enhancers	Liver	Liver
27	chr12:58246000-58246400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
28	chr12:58246000-58246400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
29	chr12:58246000-58246400	Bivalent Enhancer	HSMMtube	muscle
30	chr12:58246000-58246600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr12:58246000-58246600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
32	chr12:58246000-58246600	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr12:58246000-58246600	Enhancers	HMEC	breast
34	chr12:58246000-58246800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
35	chr12:58246000-58246800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
36	chr12:58246000-58246800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:58246000-58246800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:58246000-58246800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:58246000-58246800	Flanking Active TSS	Brain Anterior Caudate	brain
40	chr12:58246000-58246800	Flanking Active TSS	Brain Cingulate Gyrus	brain
41	chr12:58246000-58246800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr12:58246000-58246800	Active TSS	Fetal Kidney	kidney
43	chr12:58246000-58246800	Flanking Active TSS	Pancreas	Pancrea
44	chr12:58246000-58246800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
45	chr12:58246000-58247000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
46	chr12:58246000-58247000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr12:58246000-58247000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr12:58246000-58247000	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr12:58246000-58247000	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr12:58246000-58247000	Flanking Active TSS	Left Ventricle	heart

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