Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:39542620-39542770	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr19:39542640-39542790	NHLF	lung:	n/a	n/a
3	SMC3	chr19:39542732-39543450	SK-N-SH	brain:	n/a	n/a
4	TCF12	chr19:39542690-39543825	A549	lung:	n/a	n/a
5	CTCF	chr19:39542689-39543896	A549	lung:	n/a	n/a
6	CTCF	chr19:39542690-39543471	SK-N-SH	brain:	n/a	n/a
7	RAD21	chr19:39542734-39543488	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:39542686..39543478-chr19:39600712..39601594,2	MCF-7	breast:
2	chr19:39536592..39538414-chr19:39541757..39543284,2	MCF-7	breast:
3	chr19:39542598..39543558-chr19:39574352..39575276,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251709	TF binding region
ENSG00000183760	Chromatin interaction

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1268251	0.85[EUR][1000 genomes]
rs1672647	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1672649	0.81[EUR][1000 genomes]
rs473729	0.85[EUR][1000 genomes]
rs479001	0.83[EUR][1000 genomes]
rs4802012	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs485226	0.82[EUR][1000 genomes]
rs533573	0.83[EUR][1000 genomes]
rs536244	0.83[EUR][1000 genomes]
rs580494	0.81[EUR][1000 genomes]
rs600128	0.82[ASN][1000 genomes]
rs601966	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs603268	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs629685	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs631952	0.85[EUR][1000 genomes]
rs646580	0.82[EUR][1000 genomes]
rs650450	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs672576	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7254745	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73043568	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8103036	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8103319	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[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	nsv963126	chr19:39521120-39552490	Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2760517	chr19:39530012-39544234	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv458571	chr19:39533754-39628050	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv579508	chr19:39533754-39628050	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39530800-39543000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr19:39537600-39543000	Weak transcription	A549	lung
3	chr19:39538800-39543000	Weak transcription	Fetal Intestine Small	intestine
4	chr19:39541200-39546400	Weak transcription	Right Atrium	heart
5	chr19:39541800-39543200	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr19:39542200-39543200	Weak transcription	Brain Hippocampus Middle	brain
7	chr19:39542200-39546600	Enhancers	Fetal Intestine Large	intestine
8	chr19:39542400-39542800	Weak transcription	HepG2	liver

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