Variant report

Variant	rs573465136
Chromosome Location	chr2:56410466-56410467
allele	G/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	CTCF	chr2:56410405-56411276	A549	lung:	n/a	n/a
3	CTCF	chr2:56410400-56410550	AoAF	blood vessel:	n/a	n/a
4	SMC3	chr2:56410455-56411589	SK-N-SH	brain:	n/a	chr2:56410966-56410976 chr2:56410867-56410881

Variant related genes	Relation type
CCDC85A	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	esv3442902	chr2:56410148-56412896	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	3 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	chr2:56401000-56410600	Weak transcription	Left Ventricle	heart
2	chr2:56409000-56410800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:56409200-56411000	Enhancers	Placenta	Placenta
4	chr2:56409400-56410600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:56409400-56410600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
6	chr2:56409400-56411200	Weak transcription	Fetal Heart	heart
7	chr2:56409800-56410600	Enhancers	Adipose Nuclei	Adipose
8	chr2:56409800-56411000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:56410000-56410600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
10	chr2:56410000-56410800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:56410000-56410800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:56410000-56410800	Enhancers	Primary hematopoietic stem cells	blood
13	chr2:56410000-56411000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
14	chr2:56410200-56410600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
15	chr2:56410200-56410600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:56410200-56410600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:56410200-56410600	Enhancers	HUVEC	blood vessel
18	chr2:56410200-56410800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
19	chr2:56410200-56411000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
20	chr2:56410400-56412800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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