Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:64559428-64559540	GM12892	blood:	n/a	n/a
2	CTCF	chr2:64559394-64559544	K562	blood:	n/a	n/a
3	CTCF	chr2:64559437-64559569	A549	lung:	n/a	n/a
4	CEBPB	chr2:64559499-64559593	IMR90	lung:	n/a	chr2:64559559-64559570 chr2:64559559-64559572 chr2:64559559-64559572
5	CTCF	chr2:64559455-64559520	MCF-7	breast:	n/a	n/a
6	CTCF	chr2:64559431-64559539	Fibrobl	skin:	n/a	n/a
7	CTCF	chr2:64559441-64559535	MCF-7	breast:	n/a	n/a
8	CTCF	chr2:64559472-64559539	HepG2	liver:	n/a	n/a
9	CTCF	chr2:64559411-64559543	GM12878	blood:	n/a	n/a
10	CTCF	chr2:64559412-64559543	Gliobla	brain:	n/a	n/a
11	CTCF	chr2:64559437-64559542	GM19238	blood:	n/a	n/a
12	CTCF	chr2:64559437-64559539	A549	lung:	n/a	n/a
13	CTCF	chr2:64559469-64559531	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr2:64559455-64559537	NHEK	skin:	n/a	n/a
15	CTCF	chr2:64559436-64559546	GM19240	blood:	n/a	n/a
16	CTCF	chr2:64559411-64559544	HUVEC	blood vessel:	n/a	n/a
17	CTCF	chr2:64559438-64559521	A549	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000238012	TF binding region

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11683866	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1365474	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1365475	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1426698	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1426699	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1426701	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1426702	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1426703	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2059630	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2278183	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2278184	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4671562	0.82[ASN][1000 genomes]
rs6714101	0.80[ASN][1000 genomes]
rs6731818	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7601758	0.84[ASN][1000 genomes]
rs7601803	0.84[ASN][1000 genomes]
rs919122	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs919123	0.80[ASN][1000 genomes]
rs919124	0.80[ASN][1000 genomes]
rs9917300	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

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	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1006553	chr2:64339907-64764771	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1005492	chr2:64452441-64588323	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
4	nsv834244	chr2:64480943-64646259	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64552800-64560000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:64554800-64565600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:64556800-64559800	Enhancers	Fetal Intestine Large	intestine
4	chr2:64556800-64559800	Enhancers	Placenta	Placenta
5	chr2:64557800-64559600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:64557800-64559800	Enhancers	Fetal Intestine Small	intestine
7	chr2:64558000-64559600	Enhancers	Liver	Liver
8	chr2:64558200-64559600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:64558200-64559600	Enhancers	Fetal Lung	lung
10	chr2:64558200-64559800	Enhancers	Fetal Muscle Leg	muscle
11	chr2:64558200-64566000	Weak transcription	HMEC	breast
12	chr2:64558400-64559800	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr2:64558400-64560000	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr2:64558600-64559600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:64558600-64559800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:64558600-64560000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:64559200-64563400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:64559400-64566000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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