Variant report

Variant	rs529248283
Chromosome Location	chr12:118572619-118572620
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	chr12:118572617-118572632	HepG2	liver:	n/a	n/a
2	ZNF384	chr12:118572520-118572621	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:118558694..118561471-chr12:118568462..118574858,6	MCF-7	breast:
2	chr12:118496436..118502396-chr12:118572063..118576805,10	MCF-7	breast:
3	chr12:118570937..118572904-chr12:118576719..118579256,2	K562	blood:
4	chr12:118572169..118574578-chr12:118813281..118815774,2	MCF-7	breast:

Variant related genes	Relation type
PEBP1	TF binding region
ENSG00000176871	Chromatin interaction
ENSG00000111707	Chromatin interaction
ENSG00000176834	Chromatin interaction
ENSG00000089220	Chromatin interaction
ENSG00000270482	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	esv3406515	chr12:118572594-118575442	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118542600-118572800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr12:118542600-118573400	Weak transcription	Primary T cells from cord blood	blood
3	chr12:118552800-118572800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:118552800-118573400	Weak transcription	Aorta	Aorta
5	chr12:118553000-118573000	Weak transcription	Fetal Brain Female	brain
6	chr12:118558800-118572800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr12:118559200-118572800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:118559200-118573000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:118559200-118573000	Weak transcription	Fetal Kidney	kidney
10	chr12:118559200-118573400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:118559200-118573400	Weak transcription	Fetal Intestine Small	intestine
12	chr12:118559400-118572800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr12:118560800-118572800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr12:118561600-118572800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:118561600-118573000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr12:118563200-118573400	Weak transcription	Lung	lung
17	chr12:118564200-118572800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:118564400-118573200	Weak transcription	Fetal Stomach	stomach
19	chr12:118565000-118572800	Weak transcription	Gastric	stomach
20	chr12:118565200-118572800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:118566800-118573200	Weak transcription	Right Atrium	heart
22	chr12:118567400-118573200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr12:118569800-118572800	Weak transcription	Placenta	Placenta
24	chr12:118569800-118573400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr12:118569800-118573600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr12:118570000-118573000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr12:118570200-118572800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr12:118570200-118572800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr12:118570200-118572800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr12:118570200-118572800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr12:118570200-118572800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:118570200-118572800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr12:118570200-118572800	Weak transcription	Fetal Muscle Leg	muscle
34	chr12:118570200-118572800	Weak transcription	Ovary	ovary
35	chr12:118570200-118572800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr12:118570200-118572800	Weak transcription	NHDF-Ad	bronchial
37	chr12:118570200-118573000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr12:118570200-118573000	Weak transcription	Brain Germinal Matrix	brain
39	chr12:118570200-118573000	Weak transcription	Psoas Muscle	Psoas
40	chr12:118570200-118573400	Weak transcription	Colonic Mucosa	Colon
41	chr12:118570200-118573600	Weak transcription	Stomach Mucosa	stomach
42	chr12:118570400-118572800	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr12:118570400-118572800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr12:118570400-118572800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr12:118570400-118572800	Weak transcription	Adipose Nuclei	Adipose
46	chr12:118570400-118572800	Weak transcription	Brain Anterior Caudate	brain
47	chr12:118570400-118572800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr12:118570400-118572800	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr12:118570400-118572800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr12:118570400-118572800	Weak transcription	Thymus	Thymus

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