Variant report

Variant	rs546967501
Chromosome Location	chr12:43181030-43181031
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	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv558749	chr12:43180190-43275097	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:43175000-43183800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr12:43175400-43184200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:43175600-43183400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:43177600-43182200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:43179400-43181800	Weak transcription	HUVEC	blood vessel
6	chr12:43179400-43185800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:43179800-43182200	Enhancers	Fetal Lung	lung
8	chr12:43180200-43181200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:43180200-43181200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:43180200-43181600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:43180400-43181200	Enhancers	NH-A	brain
12	chr12:43180400-43181600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:43180600-43181200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr12:43180600-43181400	Enhancers	HSMMtube	muscle
15	chr12:43180600-43181600	Enhancers	HSMM	muscle
16	chr12:43180800-43184000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:43180800-43184400	Enhancers	Fetal Heart	heart
18	chr12:43181000-43181200	Enhancers	Placenta	Placenta
19	chr12:43181000-43181400	Weak transcription	NHLF	lung
20	chr12:43181000-43183800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr12:43181000-43184000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:43181000-43184000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr12:43181000-43184000	Weak transcription	Osteobl	bone
24	chr12:43181000-43184800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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