Variant report

Variant	rs4273746
Chromosome Location	chr7:66301111-66301112
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	FOS	chr7:66300929-66301236	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr7:66300960-66301204	MCF10A-Er-Src	breast:	n/a	n/a
3	FOSL2	chr7:66300989-66301263	MCF-7	breast:	n/a	n/a
4	FOSL2	chr7:66300958-66301265	HepG2	liver:	n/a	n/a
5	FOSL1	chr7:66300925-66301228	K562	blood:	n/a	chr7:66301085-66301096
6	FOS	chr7:66300902-66301220	MCF10A-Er-Src	breast:	n/a	n/a
7	JUND	chr7:66301020-66301147	K562	blood:	n/a	chr7:66301085-66301096
8	FOS	chr7:66300940-66301230	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
GTF2IRD1P1	TF binding region

Extended variants
information (count: 79 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10215516	0.87[EUR][1000 genomes]
rs10234018	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs10252765	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs10263935	0.82[EUR][1000 genomes]
rs10272546	0.84[EUR][1000 genomes]
rs10274773	0.84[EUR][1000 genomes]
rs1110414	0.82[EUR][1000 genomes]
rs11768727	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11772264	0.83[EUR][1000 genomes]
rs11772636	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11773829	0.84[EUR][1000 genomes]
rs13227951	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1553609	0.83[EUR][1000 genomes]
rs1553610	0.83[EUR][1000 genomes]
rs17566701	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1860468	0.84[EUR][1000 genomes]
rs1860470	0.83[EUR][1000 genomes]
rs1961155	0.82[EUR][1000 genomes]
rs2003301	0.84[EUR][1000 genomes]
rs2016325	0.92[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2055682	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2191268	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs2244022	0.85[CEU][hapmap]
rs2286683	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs2286684	0.84[EUR][1000 genomes]
rs2420824	0.85[EUR][1000 genomes]
rs2659889	0.83[EUR][1000 genomes]
rs2659906	0.84[EUR][1000 genomes]
rs2659909	0.85[EUR][1000 genomes]
rs2659912	0.84[EUR][1000 genomes]
rs2659915	0.84[EUR][1000 genomes]
rs2659916	0.83[EUR][1000 genomes]
rs2707822	0.83[EUR][1000 genomes]
rs2707827	0.81[EUR][1000 genomes]
rs2707836	0.84[EUR][1000 genomes]
rs2707841	0.84[EUR][1000 genomes]
rs2707845	0.93[CEU][hapmap];0.82[EUR][1000 genomes]
rs2707849	0.84[EUR][1000 genomes]
rs2707850	0.83[EUR][1000 genomes]
rs2707853	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs2707854	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs2707856	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs34191148	0.83[ASN][1000 genomes]
rs35526611	0.81[EUR][1000 genomes]
rs35986979	0.82[EUR][1000 genomes]
rs3764903	0.83[EUR][1000 genomes]
rs3778909	0.91[EUR][1000 genomes]
rs3778917	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs3800812	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs3800820	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs3800823	0.84[EUR][1000 genomes]
rs3857688	0.84[EUR][1000 genomes]
rs4279493	0.83[EUR][1000 genomes]
rs4717310	0.83[EUR][1000 genomes]
rs4717319	0.85[EUR][1000 genomes]
rs4718403	0.84[EUR][1000 genomes]
rs4718405	0.88[EUR][1000 genomes]
rs4996149	0.83[ASN][1000 genomes]
rs62466793	0.82[EUR][1000 genomes]
rs62466794	0.83[EUR][1000 genomes]
rs62467857	0.82[EUR][1000 genomes]
rs6460308	0.80[EUR][1000 genomes]
rs6958520	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs6979488	0.82[EUR][1000 genomes]
rs7779971	0.84[EUR][1000 genomes]
rs7782320	0.82[EUR][1000 genomes]
rs7783924	0.82[EUR][1000 genomes]
rs7785213	0.84[EUR][1000 genomes]
rs7788576	0.84[EUR][1000 genomes]
rs7789184	0.83[EUR][1000 genomes]
rs7793569	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs7807930	0.82[EUR][1000 genomes]
rs7807944	0.82[EUR][1000 genomes]
rs9791890	0.82[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	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
2	nsv888328	chr7:66173040-66327654	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv888329	chr7:66234585-66376095	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv3432664	chr7:66291892-66307249	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv1003570	chr7:66298899-66302713	Active TSS Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs4273746	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs4273746	RP4-756H11.3	cis	Esophagus Mucosa	GTEx
rs4273746	RP4-756H11.3	cis	Artery Tibial	GTEx
rs4273746	RP4-756H11.3	cis	Heart Left Ventricle	GTEx
rs4273746	RP4-756H11.3	cis	Muscle Skeletal	GTEx
rs4273746	RP4-756H11.3	cis	Esophagus Muscularis	GTEx
rs4273746	RP4-756H11.3	cis	Nerve Tibial	GTEx
rs4273746	RP4-756H11.3	cis	Adipose Subcutaneous	GTEx
rs4273746	RP4-756H11.3	cis	Stomach	GTEx
rs4273746	RP4-756H11.3	cis	lung	GTEx
rs4273746	RP4-756H11.3	cis	Artery Aorta	GTEx
rs4273746	RP4-756H11.3	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66297600-66309000	Weak transcription	Right Atrium	heart

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