Variant report

Variant	rs530617157
Chromosome Location	chr2:56409925-56409926
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	chr2:56408936-56411912	K562	blood:	n/a	n/a
2	POU5F1	chr2:56409491-56409986	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr2:56409482-56409930	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr2:56409820-56409970	BJ	skin:	n/a	n/a
5	TCF12	chr2:56409440-56409976	H1-hESC	embryonic stem cell:	n/a	n/a
6	SP1	chr2:56409522-56409993	H1-hESC	embryonic stem cell:	n/a	chr2:56409768-56409779
7	SP1	chr2:56409493-56409968	H1-hESC	embryonic stem cell:	n/a	chr2:56409768-56409779
8	POLR2A	chr2:56409791-56410191	H1-hESC	embryonic stem cell:	n/a	n/a
9	SIN3A	chr2:56409602-56409980	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
CCDC85A	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	esv2757799	chr2:56178439-56472394	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	esv2759051	chr2:56178439-56472394	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
3	nsv874162	chr2:56255832-56480571	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv874169	chr2:56383762-56473480	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv2762648	chr2:56386656-56422448	Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv3411625	chr2:56409873-56412421	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56400400-56410200	Weak transcription	HUVEC	blood vessel
2	chr2:56401000-56410600	Weak transcription	Left Ventricle	heart
3	chr2:56405200-56410200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:56409000-56410800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:56409200-56410200	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:56409200-56411000	Enhancers	Placenta	Placenta
7	chr2:56409400-56410000	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:56409400-56410200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
9	chr2:56409400-56410600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:56409400-56410600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
11	chr2:56409400-56411200	Weak transcription	Fetal Heart	heart
12	chr2:56409800-56410000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
13	chr2:56409800-56410000	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
14	chr2:56409800-56410000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:56409800-56410200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
16	chr2:56409800-56410200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
17	chr2:56409800-56410200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
18	chr2:56409800-56410400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:56409800-56410600	Enhancers	Adipose Nuclei	Adipose
20	chr2:56409800-56411000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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