Variant report

Variant	rs1350574
Chromosome Location	chr5:116355602-116355603
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	CEBPB	chr5:116355458-116355994	HepG2	liver:	n/a	n/a
2	FOS	chr5:116355397-116355790	MCF10A-Er-Src	breast:	n/a	n/a
3	MYC	chr5:116355447-116355713	MCF10A-Er-Src	breast:	n/a	n/a
4	STAT3	chr5:116355442-116355813	MCF10A-Er-Src	breast:	n/a	n/a
5	E2F4	chr5:116355522-116355775	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr5:116355218-116355784	MCF10A-Er-Src	breast:	n/a	n/a
7	STAT3	chr5:116355356-116355900	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr5:116355444-116355790	MCF10A-Er-Src	breast:	n/a	n/a
9	CTCF	chr5:116355460-116355724	GM12878	blood:	n/a	n/a
10	FOS	chr5:116355447-116355685	MCF10A-Er-Src	breast:	n/a	n/a
11	CEBPB	chr5:116355462-116355747	A549	lung:	n/a	n/a
12	CTCF	chr5:116355490-116355602	MCF-7	breast:	n/a	n/a
13	CEBPB	chr5:116355475-116355742	Hela-S3	cervix:	n/a	n/a
14	FOS	chr5:116355421-116355806	MCF10A-Er-Src	breast:	n/a	n/a
15	EP300	chr5:116355594-116355668	Hela-S3	cervix:	n/a	n/a
16	STAT3	chr5:116355410-116355829	MCF10A-Er-Src	breast:	n/a	n/a
17	MYC	chr5:116355537-116355773	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000250650	TF binding region

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10035261	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10039238	0.85[EUR][1000 genomes]
rs10040194	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10040196	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10045927	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10071164	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10074601	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10075567	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10076519	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10079735	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10478319	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10478320	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11241409	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13157896	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13175694	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13181718	0.85[EUR][1000 genomes]
rs1350573	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1459083	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1459085	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1459091	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1459092	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1459094	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1459095	0.80[EUR][1000 genomes]
rs1903111	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2125581	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2168993	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2168996	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2199145	0.96[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28534402	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3900640	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4512160	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4568398	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4583923	0.87[EUR][1000 genomes]
rs4920944	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6594991	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6594993	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6594994	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6594995	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6594996	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6594997	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6594998	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6595001	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6595002	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6862230	0.83[EUR][1000 genomes]
rs6868388	0.82[EUR][1000 genomes]
rs6886797	0.83[EUR][1000 genomes]
rs6888681	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6897596	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7701572	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7706678	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7716867	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7728400	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7730991	0.89[EUR][1000 genomes]
rs9285886	0.83[EUR][1000 genomes]
rs9327023	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs979883	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033379	chr5:116244963-116464338	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1016586	chr5:116317968-116377074	Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1028067	chr5:116340955-116427869	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv4970	chr5:116345489-116390583	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv882751	chr5:116349590-116453954	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:116349600-116358200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:116352800-116356600	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr5:116355000-116356200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr5:116355400-116355800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr5:116355400-116356200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr5:116355600-116356400	Enhancers	HUES6 Cell Line	embryonic stem cell

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