Variant report

Variant	rs533892346
Chromosome Location	chr12:29862925-29862926
allele	A/G
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	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv3402343	chr12:29862735-29864933	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29837600-29864200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr12:29853400-29864000	Weak transcription	Hela-S3	cervix
3	chr12:29854400-29866000	Weak transcription	HSMMtube	muscle
4	chr12:29854400-29879000	Weak transcription	Ovary	ovary
5	chr12:29854600-29863000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:29855600-29878200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr12:29855800-29891200	Weak transcription	NHLF	lung
8	chr12:29858200-29863000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:29858200-29863000	Weak transcription	HSMM	muscle
10	chr12:29859000-29864600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr12:29859200-29863200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:29859200-29867400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:29860400-29863600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:29860800-29863000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:29860800-29863000	Weak transcription	Right Atrium	heart
16	chr12:29860800-29864000	Weak transcription	Spleen	Spleen
17	chr12:29861000-29863000	Weak transcription	Fetal Kidney	kidney
18	chr12:29861000-29863000	Weak transcription	Left Ventricle	heart
19	chr12:29861400-29863400	Enhancers	Fetal Brain Female	brain
20	chr12:29861600-29863200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr12:29861600-29863400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr12:29861600-29864600	Enhancers	Fetal Muscle Leg	muscle
23	chr12:29861800-29863400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr12:29862000-29863400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr12:29862000-29863400	Enhancers	Fetal Brain Male	brain
26	chr12:29862000-29864200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr12:29862000-29864800	Enhancers	Fetal Stomach	stomach
28	chr12:29862000-29867600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:29862200-29863200	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr12:29862200-29863400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr12:29862200-29863400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr12:29862200-29863400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:29862200-29863400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:29862200-29863400	Enhancers	NHEK	skin
35	chr12:29862200-29863600	Enhancers	HMEC	breast
36	chr12:29862600-29863000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:29862600-29863200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr12:29862600-29863400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:29862600-29863400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:29862600-29863400	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr12:29862600-29863400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:29862600-29863400	Enhancers	Brain Anterior Caudate	brain
43	chr12:29862600-29863400	Flanking Active TSS	Brain Cingulate Gyrus	brain
44	chr12:29862600-29863400	Enhancers	Fetal Heart	heart
45	chr12:29862600-29863400	Enhancers	NHDF-Ad	bronchial
46	chr12:29862600-29864600	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr12:29862600-29868000	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr12:29862800-29863000	Enhancers	Adipose Nuclei	Adipose
49	chr12:29862800-29863000	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr12:29862800-29863000	Enhancers	Small Intestine	intestine

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