Variant report

Variant	rs377046952
Chromosome Location	chr12:39221463-39221464
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	nsv1047623	chr12:39187817-39539939	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv3389115	chr12:39221256-39448458	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39203200-39276000	Weak transcription	Aorta	Aorta
2	chr12:39204000-39284800	Weak transcription	Lung	lung
3	chr12:39204800-39228800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:39204800-39231800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr12:39205600-39223200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:39205600-39229400	Weak transcription	HMEC	breast
7	chr12:39206400-39225800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:39206600-39243800	Weak transcription	Left Ventricle	heart
9	chr12:39206600-39249200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr12:39206800-39226200	Weak transcription	GM12878-XiMat	blood
11	chr12:39206800-39241400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr12:39206800-39241400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:39216000-39237400	Weak transcription	Hela-S3	cervix
14	chr12:39217600-39232800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr12:39218200-39223200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:39219200-39242600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:39219400-39221600	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr12:39219400-39229000	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr12:39221000-39223000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:39221200-39221800	Strong transcription	Liver	Liver
21	chr12:39221400-39221800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr12:39221400-39222000	Enhancers	Pancreatic Islets	Pancreatic Islet

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