Variant report

Variant	rs548419119
Chromosome Location	chr12:29742363-29742364
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv469190	chr12:29612425-29811471	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv557917	chr12:29612425-29811471	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1053629	chr12:29680163-29826626	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	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
6	nsv1051913	chr12:29741676-29770807	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29709800-29756200	Weak transcription	HMEC	breast
2	chr12:29713200-29742600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:29716200-29764800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:29720200-29743600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr12:29726000-29751400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:29729400-29744000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:29731000-29742600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:29731800-29769600	Weak transcription	Hela-S3	cervix
9	chr12:29735400-29745800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:29735800-29742400	Weak transcription	NHDF-Ad	bronchial
11	chr12:29736000-29742400	Weak transcription	HSMMtube	muscle
12	chr12:29736000-29743400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr12:29736000-29744200	Weak transcription	Brain Hippocampus Middle	brain
14	chr12:29736000-29744200	Weak transcription	Right Atrium	heart
15	chr12:29736000-29752200	Weak transcription	HSMM	muscle
16	chr12:29736800-29742400	Weak transcription	NHLF	lung
17	chr12:29736800-29762800	Weak transcription	Fetal Stomach	stomach
18	chr12:29737000-29742400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr12:29737000-29742400	Weak transcription	Fetal Muscle Leg	muscle
20	chr12:29737000-29742400	Weak transcription	Lung	lung
21	chr12:29737000-29743200	Weak transcription	Fetal Heart	heart
22	chr12:29737000-29744200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr12:29737000-29748400	Weak transcription	Spleen	Spleen
24	chr12:29737200-29742400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:29737200-29742800	Weak transcription	Left Ventricle	heart
26	chr12:29737200-29744000	Weak transcription	Adipose Nuclei	Adipose
27	chr12:29737200-29744200	Weak transcription	Ovary	ovary
28	chr12:29737200-29744200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr12:29737200-29746800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr12:29737200-29748400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr12:29737200-29761800	Weak transcription	Right Ventricle	heart
32	chr12:29737200-29762400	Weak transcription	Colon Smooth Muscle	Colon
33	chr12:29737200-29762800	Weak transcription	Psoas Muscle	Psoas
34	chr12:29740000-29742400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr12:29741000-29748200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr12:29741400-29742400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr12:29742000-29742400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:29742000-29742600	Weak transcription	Aorta	Aorta
39	chr12:29742000-29743600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:29742200-29742400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr12:29742200-29743400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr12:29742200-29743400	Enhancers	Fetal Lung	lung
43	chr12:29742200-29746000	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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