Variant report

Variant	rs74079321
Chromosome Location	chr12:42327019-42327020
allele	G/T
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	NFIC	chr12:42325795-42327070	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
ENSG00000257239	TF binding region

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	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	esv2141246	chr12:42326869-42327313	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42326000-42327400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:42326000-42327800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr12:42326200-42327600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr12:42326600-42327400	Enhancers	Fetal Heart	heart
5	chr12:42326800-42327400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:42326800-42327400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:42326800-42327400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr12:42326800-42327400	Enhancers	Fetal Stomach	stomach
9	chr12:42326800-42327800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:42326800-42328000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:42326800-42328000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:42326800-42330000	Weak transcription	Aorta	Aorta
13	chr12:42326800-42333800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:42327000-42327200	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr12:42327000-42327200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:42327000-42327400	Enhancers	Primary hematopoietic stem cells	blood
17	chr12:42327000-42327400	Enhancers	Brain Hippocampus Middle	brain
18	chr12:42327000-42327400	Enhancers	Fetal Muscle Leg	muscle
19	chr12:42327000-42327400	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr12:42327000-42327600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:42327000-42327600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr12:42327000-42327600	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr12:42327000-42327600	Enhancers	Fetal Brain Male	brain
24	chr12:42327000-42327800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr12:42327000-42327800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:42327000-42327800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr12:42327000-42327800	Enhancers	Brain Germinal Matrix	brain
28	chr12:42327000-42327800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr12:42327000-42328000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
30	chr12:42327000-42328000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
31	chr12:42327000-42328400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
32	chr12:42327000-42329000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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