Variant report

Variant	rs551617904
Chromosome Location	chr5:147246631-147246632
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	POLR2A	chr5:147246099-147256428	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
SCGB3A2	TF binding region

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	nsv1021356	chr5:147103627-147310531	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1033907	chr5:147109014-147309076	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv537916	chr5:147109014-147309076	Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv3334831	chr5:147165950-147339765	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv933308	chr5:147173804-147269006	Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv3397747	chr5:147245959-147250557	Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147234200-147262400	Weak transcription	Right Atrium	heart
2	chr5:147238600-147248800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:147239800-147248600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:147240000-147248800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr5:147240400-147248600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:147243400-147248800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:147243800-147248600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr5:147244200-147247000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr5:147244200-147247200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr5:147244200-147248600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:147244600-147247200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:147244600-147247400	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr5:147244600-147248800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr5:147245200-147248800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr5:147245600-147247000	Genic enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr5:147245600-147247200	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr5:147245600-147247200	Genic enhancers	HUES48 Cell Line	embryonic stem cell
18	chr5:147245600-147247800	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
19	chr5:147246200-147247400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr5:147246400-147247200	Genic enhancers	H1 Cell Line	embryonic stem cell
21	chr5:147246600-147246800	Active TSS	H9 Cell Line	embryonic stem cell
22	chr5:147246600-147248800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:147246600-147248800	Weak transcription	Primary monocytes fromperipheralblood	blood

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