Variant report

Variant	rs117031870
Chromosome Location	chr12:29862781-29862782
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:63 , 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	chr12:29855600-29862800	Weak transcription	Aorta	Aorta
7	chr12:29855600-29878200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr12:29855800-29891200	Weak transcription	NHLF	lung
9	chr12:29858200-29862800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr12:29858200-29863000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:29858200-29863000	Weak transcription	HSMM	muscle
12	chr12:29858600-29862800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr12:29859000-29864600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr12:29859200-29862800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr12:29859200-29862800	Weak transcription	Right Ventricle	heart
16	chr12:29859200-29863200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:29859200-29867400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:29859600-29862800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr12:29859600-29862800	Weak transcription	Brain Germinal Matrix	brain
20	chr12:29859600-29862800	Weak transcription	Brain Substantia Nigra	brain
21	chr12:29860400-29863600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:29860800-29863000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:29860800-29863000	Weak transcription	Right Atrium	heart
24	chr12:29860800-29864000	Weak transcription	Spleen	Spleen
25	chr12:29861000-29862800	Weak transcription	Psoas Muscle	Psoas
26	chr12:29861000-29863000	Weak transcription	Fetal Kidney	kidney
27	chr12:29861000-29863000	Weak transcription	Left Ventricle	heart
28	chr12:29861200-29862800	Enhancers	Stomach Smooth Muscle	stomach
29	chr12:29861400-29863400	Enhancers	Fetal Brain Female	brain
30	chr12:29861600-29862800	Weak transcription	Adipose Nuclei	Adipose
31	chr12:29861600-29862800	Enhancers	Colon Smooth Muscle	Colon
32	chr12:29861600-29863200	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr12:29861600-29863400	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr12:29861600-29864600	Enhancers	Fetal Muscle Leg	muscle
35	chr12:29861800-29862800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr12:29861800-29863400	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr12:29862000-29862800	Enhancers	Fetal Lung	lung
38	chr12:29862000-29863400	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr12:29862000-29863400	Enhancers	Fetal Brain Male	brain
40	chr12:29862000-29864200	Enhancers	Muscle Satellite Cultured Cells	--
41	chr12:29862000-29864800	Enhancers	Fetal Stomach	stomach
42	chr12:29862000-29867600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:29862200-29863200	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr12:29862200-29863400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr12:29862200-29863400	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr12:29862200-29863400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr12:29862200-29863400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:29862200-29863400	Enhancers	NHEK	skin
49	chr12:29862200-29863600	Enhancers	HMEC	breast
50	chr12:29862400-29862800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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