Variant report

Variant	rs1372408
Chromosome Location	chr4:77171728-77171729
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	STAT3	chr4:77171709-77171759	MCF10A-Er-Src	breast:	n/a	n/a
2	RFX5	chr4:77171716-77173784	SK-N-SH	brain:	n/a	chr4:77172778-77172794 chr4:77172825-77172839 chr4:77172823-77172837 chr4:77172827-77172836 chr4:77172780-77172789

No.	Distal block	Cell Line	Cell type
1	chr4:77069302..77071113-chr4:77170408..77173032,2	MCF-7	breast:
2	chr4:77161340..77163165-chr4:77170390..77172586,2	MCF-7	breast:
3	chr4:77133278..77135557-chr4:77171656..77174471,3	MCF-7	breast:
4	chr4:77171208..77175531-chr4:77176138..77180024,6	K562	blood:

Variant related genes	Relation type
FAM47E-STBD1	TF binding region
ENSG00000272414	TF binding region
FAM47E	TF binding region
ENSG00000138750	Chromatin interaction
ENSG00000138760	Chromatin interaction
ENSG00000189157	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10446680	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11097296	0.88[ASN][1000 genomes]
rs11097297	0.88[ASN][1000 genomes]
rs11737624	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12331583	0.88[ASN][1000 genomes]
rs12501795	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1348206	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1348208	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1441906	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1441907	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1441908	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1441917	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1441918	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1441919	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1441921	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1441922	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2197102	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2218264	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28530675	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28718095	0.86[ASN][1000 genomes]
rs2904215	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2904216	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35177915	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35851125	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3919711	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4859645	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4859647	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56371028	0.88[ASN][1000 genomes]
rs6814385	0.88[ASN][1000 genomes]
rs6837231	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6837841	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6854218	0.88[ASN][1000 genomes]
rs6855568	0.87[ASN][1000 genomes]
rs7657929	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2760851	chr4:77164549-77185144	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv516357	chr4:77167242-77178379	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv2421530	chr4:77167242-77178676	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77167600-77171800	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr4:77171400-77171800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr4:77171400-77172000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
4	chr4:77171600-77172000	Enhancers	Fetal Intestine Large	intestine
5	chr4:77171600-77173800	Active TSS	Pancreatic Islets	Pancreatic Islet

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