Variant report

Variant	rs7683057
Chromosome Location	chr4:8591787-8591788
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	CTCF	chr4:8591780-8591930	BJ	skin:	n/a	chr4:8591854-8591863
2	CTCF	chr4:8591760-8591910	AG09319	gingival:	n/a	chr4:8591854-8591863
3	CTCF	chr4:8591780-8591930	HCPEpiC	choroid plexus:	n/a	chr4:8591854-8591863
4	CTCF	chr4:8591720-8591870	BJ	skin:	n/a	chr4:8591854-8591863
5	CTCF	chr4:8591720-8591870	NHDF-neo	bronchial:	n/a	chr4:8591854-8591863
6	CTCF	chr4:8591740-8591890	AG09319	gingival:	n/a	chr4:8591854-8591863

No.	Distal block	Cell Line	Cell type
1	chr4:8581776..8584128-chr4:8590195..8592685,3	K562	blood:
2	chr4:8547587..8550346-chr4:8589117..8591927,3	MCF-7	breast:
3	chr4:8468812..8470313-chr4:8589998..8592913,2	K562	blood:
4	chr4:8590424..8592185-chr4:8596876..8599266,2	K562	blood:
5	chr4:8582036..8584128-chr4:8589824..8592478,3	K562	blood:
6	chr4:8468552..8470312-chr4:8591413..8592935,2	K562	blood:
7	chr4:8590141..8592229-chr4:8594534..8596256,2	K562	blood:

Variant related genes	Relation type
CPZ	TF binding region
ENSG00000155269	Chromatin interaction
ENSG00000109625	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs13110471	0.87[EUR][1000 genomes]
rs13146971	0.87[EUR][1000 genomes]
rs2302582	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3756181	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3775884	0.95[ASN][1000 genomes]
rs3775885	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3775886	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3796737	0.92[ASN][1000 genomes]
rs3796739	0.92[ASN][1000 genomes]
rs73213354	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73213364	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1002680	chr4:8357163-8721214	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv878612	chr4:8534283-8618916	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv1832730	chr4:8541086-9514568	Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
5	esv1843578	chr4:8541086-9514568	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
6	nsv878613	chr4:8554894-8618916	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv878614	chr4:8554894-8669619	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv878615	chr4:8566758-8625245	Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv878616	chr4:8566758-8669619	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv878617	chr4:8566758-9371116	ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
11	nsv1014219	chr4:8578779-8724531	Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv878618	chr4:8579758-8641696	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv878619	chr4:8579758-8669619	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv878620	chr4:8584879-8674871	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv470015	chr4:8584879-8729638	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	nsv878621	chr4:8584879-9371116	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	50 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	chr4:8573400-8609400	Weak transcription	Right Atrium	heart
2	chr4:8584600-8593800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:8586800-8591800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:8587600-8593400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr4:8588800-8594000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:8589200-8593800	Weak transcription	Spleen	Spleen
7	chr4:8591200-8591800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:8591200-8593000	Enhancers	Ovary	ovary
9	chr4:8591200-8593000	Enhancers	NHDF-Ad	bronchial
10	chr4:8591200-8593600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr4:8591200-8594000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:8591400-8592400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr4:8591400-8592400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr4:8591400-8592600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:8591400-8592600	Enhancers	Fetal Kidney	kidney
16	chr4:8591400-8592600	Bivalent Enhancer	Fetal Stomach	stomach
17	chr4:8591400-8592800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:8591400-8594200	Genic enhancers	Placenta	Placenta
19	chr4:8591600-8591800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:8591600-8592600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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