Variant report

Variant	rs138721485
Chromosome Location	chr12:106679820-106679821
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:106679605..106682241-chr12:106684127..106685839,2	K562	blood:
2	chr12:106679091..106681654-chr12:106715669..106717926,2	MCF-7	breast:

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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	esv1794382	chr12:106679812-106699151	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106666200-106680800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:106676600-106681000	Weak transcription	Stomach Mucosa	stomach
3	chr12:106677000-106681400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr12:106677200-106682200	Weak transcription	Fetal Intestine Large	intestine
5	chr12:106677200-106683600	Enhancers	HepG2	liver
6	chr12:106678400-106680000	Enhancers	Left Ventricle	heart
7	chr12:106678400-106680000	Enhancers	Right Atrium	heart
8	chr12:106678600-106682800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr12:106678600-106688800	Weak transcription	Lung	lung
10	chr12:106678800-106681000	Weak transcription	NHEK	skin
11	chr12:106678800-106681400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:106678800-106682600	Weak transcription	Brain Angular Gyrus	brain
13	chr12:106678800-106682600	Weak transcription	HSMMtube	muscle
14	chr12:106679000-106682400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr12:106679000-106682400	Weak transcription	HUVEC	blood vessel
16	chr12:106679000-106682600	Weak transcription	Esophagus	oesophagus
17	chr12:106679200-106680400	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr12:106679400-106680000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
19	chr12:106679600-106680000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:106679600-106680000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:106679600-106680000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:106679600-106680000	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr12:106679600-106680000	Bivalent Enhancer	GM12878-XiMat	blood
24	chr12:106679600-106680200	Enhancers	Primary B cells from peripheral blood	blood
25	chr12:106679800-106680800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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