Variant report

Variant	rs539864767
Chromosome Location	chr12:29863482-29863483
allele	-/AATA
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	esv3403988	chr12:29863085-29864533	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:53 , 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	chr12:29855600-29878200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr12:29855800-29891200	Weak transcription	NHLF	lung
7	chr12:29859000-29864600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr12:29859200-29867400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:29860400-29863600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:29860800-29864000	Weak transcription	Spleen	Spleen
11	chr12:29861600-29864600	Enhancers	Fetal Muscle Leg	muscle
12	chr12:29862000-29864200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr12:29862000-29864800	Enhancers	Fetal Stomach	stomach
14	chr12:29862000-29867600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:29862200-29863600	Enhancers	HMEC	breast
16	chr12:29862600-29864600	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr12:29862600-29868000	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr12:29863000-29863600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr12:29863000-29863600	Enhancers	Left Ventricle	heart
20	chr12:29863000-29863600	Enhancers	Right Atrium	heart
21	chr12:29863000-29864600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:29863000-29867600	Weak transcription	Small Intestine	intestine
23	chr12:29863200-29863600	Enhancers	Fetal Lung	lung
24	chr12:29863200-29864000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr12:29863200-29866000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:29863200-29867400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr12:29863200-29868400	Enhancers	Colon Smooth Muscle	Colon
28	chr12:29863200-29878800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr12:29863400-29863800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr12:29863400-29863800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr12:29863400-29864200	Weak transcription	HSMM	muscle
32	chr12:29863400-29864400	Weak transcription	NHDF-Ad	bronchial
33	chr12:29863400-29864600	Enhancers	Adipose Nuclei	Adipose
34	chr12:29863400-29865000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr12:29863400-29865000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr12:29863400-29865400	Enhancers	Stomach Smooth Muscle	stomach
37	chr12:29863400-29865600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:29863400-29865600	Weak transcription	NHEK	skin
39	chr12:29863400-29865800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:29863400-29865800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:29863400-29865800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr12:29863400-29865800	Weak transcription	Fetal Heart	heart
43	chr12:29863400-29866000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr12:29863400-29866000	Weak transcription	Fetal Brain Male	brain
45	chr12:29863400-29866200	Weak transcription	Psoas Muscle	Psoas
46	chr12:29863400-29867000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr12:29863400-29870000	Weak transcription	Aorta	Aorta
48	chr12:29863400-29872000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:29863400-29878200	Weak transcription	Brain Anterior Caudate	brain
50	chr12:29863400-29878200	Weak transcription	Right Ventricle	heart

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