Variant report

Variant	rs530081047
Chromosome Location	chr6:12749036-12749037
allele	A/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	RAD21	chr6:12748672-12749038	H1-hESC	embryonic stem cell:	n/a	chr6:12748857-12748869 chr6:12748857-12748867
2	SIN3A	chr6:12748563-12750726	H1-hESC	embryonic stem cell:	n/a	n/a
3	MXI1	chr6:12748447-12750926	SK-N-SH	brain:	n/a	n/a
4	CTBP2	chr6:12748829-12750689	H1-hESC	embryonic stem cell:	n/a	n/a
5	GATA2	chr6:12748846-12749679	SH-SY5Y	brain:	n/a	chr6:12749182-12749192 chr6:12749184-12749191 chr6:12749182-12749191 chr6:12749184-12749191 chr6:12749182-12749191 chr6:12749184-12749191
6	REST	chr6:12748947-12751024	H1-neurons	neurons:	n/a	chr6:12750584-12750604 chr6:12750905-12750923 chr6:12750584-12750604 chr6:12750914-12750932
7	CTCF	chr6:12748760-12749074	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
PHACTR1	TF binding region
ENSG00000223291	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3521000	chr6:12561306-13128519	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3521001	chr6:12561306-13128519	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv3361165	chr6:12748791-12751339	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
4	esv3432117	chr6:12748916-12751314	Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12748200-12749200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
2	chr6:12748600-12749400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:12748800-12750400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr6:12748800-12750600	Active TSS	H1 Cell Line	embryonic stem cell
5	chr6:12748800-12750600	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr6:12748800-12750600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr6:12748800-12750600	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr6:12748800-12751000	Active TSS	H9 Cell Line	embryonic stem cell
9	chr6:12748800-12752600	Active TSS	Fetal Brain Female	brain
10	chr6:12749000-12749200	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:12749000-12749200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
12	chr6:12749000-12749200	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
13	chr6:12749000-12749200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:12749000-12749200	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr6:12749000-12749400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:12749000-12749400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
17	chr6:12749000-12749400	Flanking Active TSS	Brain Germinal Matrix	brain
18	chr6:12749000-12749600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr6:12749000-12750400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr6:12749000-12750400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr6:12749000-12750600	Active TSS	HSMM	muscle
22	chr6:12749000-12750800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr6:12749000-12751000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
24	chr6:12749000-12751000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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