Variant report

Variant	rs542473932
Chromosome Location	chr2:127963454-127963455
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr2:127963374-127963624	H1-hESC	embryonic stem cell:	n/a	chr2:127963550-127963564 chr2:127963526-127963538 chr2:127963527-127963549 chr2:127963526-127963542

Variant related genes	Relation type
CYP27C1	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006112	chr2:127830117-128032546	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv2757832	chr2:127830943-128006514	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	esv2759090	chr2:127830943-128006514	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1011378	chr2:127841930-128020546	Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv999809	chr2:127841930-128032546	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1010669	chr2:127848860-128032546	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv1003599	chr2:127871183-128059407	Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv535920	chr2:127871183-128059407	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv961678	chr2:127961305-127979990	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv3331416	chr2:127962771-127980988	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127934600-127965600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:127948800-127973400	Weak transcription	HMEC	breast
3	chr2:127951200-127965800	Weak transcription	Esophagus	oesophagus
4	chr2:127952200-127964400	Weak transcription	Right Atrium	heart
5	chr2:127952200-127975200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:127954200-127964000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:127954800-127965600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:127955000-127965600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr2:127956400-127975800	Weak transcription	Fetal Kidney	kidney
10	chr2:127957400-127965800	Weak transcription	NHEK	skin
11	chr2:127959400-127965800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:127961200-127965800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:127961400-127965800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:127962400-127963600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:127962400-127963600	Enhancers	Placenta	Placenta
16	chr2:127962400-127963600	Genic enhancers	Fetal Stomach	stomach
17	chr2:127962600-127963600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:127962600-127963800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr2:127962600-127965600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr2:127962800-127963600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr2:127962800-127963800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr2:127963000-127963600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:127963000-127963600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
24	chr2:127963000-127963800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr2:127963000-127963800	Active TSS	Fetal Brain Female	brain
26	chr2:127963000-127965800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:127963200-127963600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr2:127963200-127963600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:127963200-127963600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:127963200-127963600	Active TSS	Fetal Intestine Small	intestine
31	chr2:127963200-127963800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
32	chr2:127963400-127963600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:127963400-127963600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr2:127963400-127963600	Enhancers	Fetal Lung	lung
35	chr2:127963400-127963800	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr2:127963400-127965400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr2:127963400-127965800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:127963400-127965800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr2:127963400-127965800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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