Variant report

Variant	rs189228488
Chromosome Location	chr12:118600310-118600311
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	chr12:118600290-118601103	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:118596371..118598245-chr12:118599433..118601239,2	K562	blood:

Variant related genes	Relation type
ENSG00000221280	TF binding region
TAOK3	TF binding region
ENSG00000135090	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv1054703	chr12:118575000-118638613	Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv541611	chr12:118575000-118638613	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1035497	chr12:118599539-118732144	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv541612	chr12:118599539-118732144	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr12:118575600-118601600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr12:118576000-118601200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:118576000-118619600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr12:118576000-118624000	Weak transcription	Stomach Mucosa	stomach
5	chr12:118577400-118601800	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr12:118578200-118611600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:118578600-118603200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr12:118584000-118627600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:118585600-118603000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:118585800-118619000	Weak transcription	HepG2	liver
11	chr12:118586200-118601000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:118586200-118619400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:118586600-118613600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:118586800-118600400	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr12:118586800-118600800	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr12:118586800-118601400	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr12:118586800-118603600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr12:118587000-118600400	Strong transcription	Primary T cells from cord blood	blood
19	chr12:118587600-118611200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr12:118587600-118619200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:118587800-118620000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr12:118589000-118601200	Strong transcription	Primary B cells from peripheral blood	blood
23	chr12:118589400-118601200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:118589600-118619000	Weak transcription	A549	lung
25	chr12:118590400-118617000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr12:118592600-118619400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:118593000-118601200	Strong transcription	Primary hematopoietic stem cells	blood
28	chr12:118593200-118600400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr12:118593200-118619200	Strong transcription	Fetal Brain Female	brain
30	chr12:118593200-118619400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr12:118593200-118619600	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr12:118593400-118600400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr12:118593600-118600400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr12:118593600-118600600	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr12:118593600-118601600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr12:118593800-118600400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr12:118593800-118600400	Strong transcription	Liver	Liver
38	chr12:118593800-118600400	Strong transcription	Left Ventricle	heart
39	chr12:118594000-118600400	Strong transcription	NHEK	skin
40	chr12:118594000-118601200	Strong transcription	Brain Germinal Matrix	brain
41	chr12:118594000-118601200	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr12:118595000-118600400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr12:118595000-118600600	Strong transcription	Fetal Lung	lung
44	chr12:118595000-118600600	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr12:118595000-118600800	Strong transcription	NHLF	lung
46	chr12:118595000-118601000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr12:118595000-118601000	Strong transcription	Dnd41	blood
48	chr12:118595000-118601200	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr12:118595000-118602400	Strong transcription	Fetal Intestine Large	intestine
50	chr12:118595200-118600400	Strong transcription	Fetal Thymus	thymus

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