Variant report

Variant	rs2173633
Chromosome Location	chr12:58246751-58246752
allele	C/T
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: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1564375	1.00[AMR][1000 genomes]
rs238524	1.00[AMR][1000 genomes]
rs238529	1.00[AMR][1000 genomes]
rs35957924	1.00[AMR][1000 genomes]
rs7958927	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:109 , 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	chr12:58244400-58246800	Bivalent Enhancer	GM12878-XiMat	blood
4	chr12:58244400-58247000	Enhancers	Fetal Heart	heart
5	chr12:58244400-58247200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr12:58244400-58248000	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr12:58244400-58248400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:58245000-58246800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr12:58245600-58247600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr12:58245800-58247000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:58245800-58247200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
12	chr12:58245800-58247600	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr12:58246000-58246800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
14	chr12:58246000-58246800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
15	chr12:58246000-58246800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:58246000-58246800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:58246000-58246800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:58246000-58246800	Flanking Active TSS	Brain Anterior Caudate	brain
19	chr12:58246000-58246800	Flanking Active TSS	Brain Cingulate Gyrus	brain
20	chr12:58246000-58246800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:58246000-58246800	Active TSS	Fetal Kidney	kidney
22	chr12:58246000-58246800	Flanking Active TSS	Pancreas	Pancrea
23	chr12:58246000-58246800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
24	chr12:58246000-58247000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
25	chr12:58246000-58247000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:58246000-58247000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:58246000-58247000	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr12:58246000-58247000	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr12:58246000-58247000	Flanking Active TSS	Left Ventricle	heart
30	chr12:58246000-58247200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:58246000-58247200	Bivalent Enhancer	Primary B cells from cord blood	blood
32	chr12:58246000-58247200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:58246000-58247200	Flanking Active TSS	Brain Germinal Matrix	brain
34	chr12:58246000-58247200	Active TSS	Fetal Brain Female	brain
35	chr12:58246000-58247200	Flanking Active TSS	Fetal Stomach	stomach
36	chr12:58246000-58247200	Bivalent Enhancer	Stomach Mucosa	stomach
37	chr12:58246000-58247600	Enhancers	Fetal Brain Male	brain
38	chr12:58246200-58246800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr12:58246200-58246800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:58246200-58246800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:58246200-58246800	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr12:58246200-58246800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr12:58246200-58246800	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
44	chr12:58246200-58246800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr12:58246200-58246800	Active TSS	Aorta	Aorta
46	chr12:58246200-58246800	Active TSS	Brain Angular Gyrus	brain
47	chr12:58246200-58246800	Active TSS	Colon Smooth Muscle	Colon
48	chr12:58246200-58246800	Flanking Active TSS	Placenta	Placenta
49	chr12:58246200-58246800	Flanking Active TSS	Fetal Thymus	thymus
50	chr12:58246200-58246800	Flanking Active TSS	Lung	lung

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