Variant report

Variant	rs4820552
Chromosome Location	chr22:23728769-23728770
allele	A/G
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	CTCF	chr22:23727765-23728795	SK-N-SH	brain:	n/a	chr22:23728187-23728196 chr22:23728260-23728273 chr22:23728501-23728509 chr22:23728261-23728271 chr22:23728253-23728274 chr22:23728181-23728199 chr22:23728258-23728276 chr22:23728259-23728275
2	CTCF	chr22:23728620-23728770	HCM	heart:	n/a	n/a
3	CTCF	chr22:23728620-23728770	HL-60	blood:	n/a	n/a
4	SMC3	chr22:23727888-23728900	SK-N-SH	brain:	n/a	chr22:23728260-23728274
5	RAD21	chr22:23727844-23728845	SK-N-SH	brain:	n/a	chr22:23728500-23728514 chr22:23728501-23728515 chr22:23728256-23728275 chr22:23728258-23728270 chr22:23728807-23728821 chr22:23728179-23728198

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:23728174..23728812-chr22:23881510..23882034,2	K562	blood:
2	chr22:23302255..23302789-chr22:23727921..23728846,2	MCF-7	breast:

Variant related genes	Relation type
CES5AP1	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs4822390	0.82[EUR][1000 genomes]
rs7287011	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73392651	0.84[EUR][1000 genomes]
rs9612341	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056324	chr22:23055148-23750989	Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv1057659	chr22:23400739-24138788	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv9876	chr22:23563331-23923059	Strong transcription Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv482557	chr22:23584948-23741799	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv531550	chr22:23589667-24012550	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	esv2762117	chr22:23592136-23996869	Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv1063476	chr22:23596683-23989388	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
8	nsv544617	chr22:23596683-23989388	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
9	nsv1059951	chr22:23597270-23973060	Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	nsv1060339	chr22:23603429-23984195	Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
11	nsv544618	chr22:23603429-23984195	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
12	nsv1059384	chr22:23614429-23984195	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
13	nsv544619	chr22:23614429-23984195	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
14	nsv588601	chr22:23632665-23979219	Bivalent Enhancer Active TSS Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
15	nsv914579	chr22:23650987-23995056	Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
16	nsv1057910	chr22:23704457-23750847	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv914580	chr22:23720420-23757964	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv914581	chr22:23720420-23995056	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
19	nsv914582	chr22:23723721-23750847	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv914583	chr22:23723721-23752398	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	nsv829099	chr22:23726903-23747505	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23725200-23728800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
2	chr22:23725400-23736800	Weak transcription	Fetal Brain Female	brain
3	chr22:23726200-23729800	Weak transcription	Spleen	Spleen
4	chr22:23726400-23734600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr22:23726600-23730000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr22:23726600-23731400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr22:23726800-23731400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr22:23726800-23733200	Weak transcription	Lung	lung
9	chr22:23726800-23739400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr22:23726800-23744200	Weak transcription	Brain Anterior Caudate	brain
11	chr22:23727400-23729200	Weak transcription	Brain Germinal Matrix	brain
12	chr22:23727400-23731200	Weak transcription	Fetal Intestine Small	intestine
13	chr22:23727800-23728800	Enhancers	A549	lung
14	chr22:23727800-23730800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr22:23728000-23728800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr22:23728200-23728800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
17	chr22:23728200-23729000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr22:23728200-23731400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr22:23728400-23728800	Enhancers	Fetal Thymus	thymus
20	chr22:23728600-23728800	Bivalent Enhancer	HepG2	liver
21	chr22:23728600-23730000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr22:23728600-23730800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr22:23728600-23733800	Weak transcription	Ovary	ovary
24	chr22:23728600-23744200	Weak transcription	Brain Angular Gyrus	brain
25	chr22:23728600-23744200	Weak transcription	Brain Hippocampus Middle	brain

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