Variant report

Variant	rs547970229
Chromosome Location	chr12:29934642-29934643
allele	C/T
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	nsv898953	chr12:29905322-29989292	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv826294	chr12:29934604-29940372	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29928800-29934800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr12:29932000-29934800	Weak transcription	Liver	Liver
3	chr12:29932400-29934800	Weak transcription	Ovary	ovary
4	chr12:29932400-29935200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:29932400-29935200	Weak transcription	Spleen	Spleen
6	chr12:29932800-29935200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:29933000-29937800	Active TSS	Aorta	Aorta
8	chr12:29933400-29935000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr12:29933800-29937800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:29934000-29934800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:29934000-29935000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:29934000-29935000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:29934000-29935000	Flanking Active TSS	Hela-S3	cervix
14	chr12:29934000-29935200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr12:29934000-29935600	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr12:29934000-29936400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
17	chr12:29934000-29937800	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr12:29934000-29937800	Active TSS	Fetal Kidney	kidney
19	chr12:29934000-29937800	Active TSS	NHLF	lung
20	chr12:29934000-29938000	Active TSS	Right Ventricle	heart
21	chr12:29934200-29934800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:29934200-29934800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
23	chr12:29934200-29934800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr12:29934200-29934800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:29934200-29934800	Flanking Active TSS	Psoas Muscle	Psoas
26	chr12:29934200-29934800	Active TSS	NHDF-Ad	bronchial
27	chr12:29934200-29935000	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr12:29934200-29935000	Flanking Active TSS	HMEC	breast
29	chr12:29934200-29935200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:29934200-29935400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:29934200-29935600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
32	chr12:29934200-29935800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr12:29934200-29937400	Active TSS	Lung	lung
34	chr12:29934200-29937600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
35	chr12:29934200-29937600	Active TSS	Rectal Smooth Muscle	rectum
36	chr12:29934200-29937800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:29934400-29934800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
38	chr12:29934400-29934800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr12:29934400-29934800	Enhancers	Fetal Brain Male	brain
40	chr12:29934400-29934800	Flanking Active TSS	Left Ventricle	heart
41	chr12:29934400-29934800	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr12:29934400-29934800	Flanking Active TSS	HSMM	muscle
43	chr12:29934400-29934800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
44	chr12:29934400-29935000	Flanking Active TSS	Colon Smooth Muscle	Colon
45	chr12:29934400-29935200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
46	chr12:29934400-29935200	Flanking Active TSS	Fetal Heart	heart
47	chr12:29934400-29935400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
48	chr12:29934400-29935600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr12:29934400-29936400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
50	chr12:29934400-29937600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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