Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:22191557-22192122	MCF-7	breast:	n/a	chr14:22191842-22191860
2	RAD21	chr14:22191678-22192045	H1-hESC	embryonic stem cell:	n/a	n/a
3	ZNF143	chr14:22191668-22192042	H1-hESC	embryonic stem cell:	n/a	n/a
4	RAD21	chr14:22191673-22192098	ECC-1	luminal epithelium:	n/a	n/a
5	ZNF263	chr14:22191665-22192240	HEK293-T-REx	kidney:	n/a	n/a
6	JUND	chr14:22191594-22192003	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr14:22191611-22192086	H1-hESC	embryonic stem cell:	n/a	chr14:22191842-22191860
8	FOXP2	chr14:22191663-22192058	SK-N-MC	brain:	n/a	n/a
9	CTCF	chr14:22191680-22191830	HFF-Myc	foreskin:	n/a	n/a
10	CTCF	chr14:22191680-22191830	A549	lung:	n/a	n/a
11	POLR2A	chr14:22191563-22193386	SK-N-MC	brain:	n/a	n/a
12	CTCF	chr14:22191680-22191970	BJ	skin:	n/a	chr14:22191842-22191860
13	CTCF	chr14:22191649-22192036	H1-hESC	embryonic stem cell:	n/a	chr14:22191842-22191860
14	RAD21	chr14:22191563-22192105	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr14:22191664-22192027	GM12878	blood:	n/a	chr14:22191842-22191860
16	POLR2A	chr14:22191640-22193394	SK-N-MC	brain:	n/a	n/a
17	CTCF	chr14:22191680-22191830	GM12870	blood:	n/a	n/a
18	CTCF	chr14:22191615-22192021	HepG2	liver:	n/a	chr14:22191842-22191860
19	CTCF	chr14:22191668-22192037	K562	blood:	n/a	chr14:22191842-22191860
20	CTCF	chr14:22191660-22191810	HMEC	breast:	n/a	n/a
21	CREB1	chr14:22191628-22192099	H1-hESC	embryonic stem cell:	n/a	n/a
22	RAD21	chr14:22191664-22192064	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
TRAV3	TF binding region

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10148566	0.82[ASN][1000 genomes]
rs10151114	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1018344	0.92[EUR][1000 genomes]
rs12589185	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12589962	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12894518	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17182761	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2319874	0.83[ASN][1000 genomes]
rs2319875	0.83[ASN][1000 genomes]
rs4513011	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4628878	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55654479	0.83[ASN][1000 genomes]
rs7143695	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7158141	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8013476	0.91[EUR][1000 genomes]
rs8016911	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[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	nsv1042309	chr14:22042511-22866936	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	90 gene(s)	inside rSNPs	diseases
2	nsv456147	chr14:22073473-22305071	Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv563851	chr14:22073473-22305071	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	nsv510629	chr14:22134425-22215842	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:22188400-22209600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:22191400-22192800	Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr14:22191600-22191800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr14:22191600-22192000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr14:22191600-22192400	Active TSS	Fetal Thymus	thymus
6	chr14:22191600-22192600	Active TSS	Primary T cells from cord blood	blood
7	chr14:22191600-22192600	Active TSS	Primary T killer memory cells from peripheral blood	blood

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