Variant report

Variant	rs503115
Chromosome Location	chr7:99459144-99459145
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:99459096..99460901-chr7:99516939..99518497,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000146833	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10235630	0.82[ASN][1000 genomes]
rs1025576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1048705	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10808114	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2060452	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2082744	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2082745	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2099445	0.82[ASN][1000 genomes]
rs2099446	0.96[ASN][1000 genomes]
rs2247761	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2527899	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2527901	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2527903	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2527906	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2527909	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2527911	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2527913	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2527914	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2527915	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2527919	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2527921	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2527922	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2527925	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2527926	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2571991	0.80[AMR][1000 genomes]
rs2571992	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2571993	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2571994	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2571996	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2571997	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2571998	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2571999	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2572003	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2572005	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2572006	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2572008	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2572009	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2572010	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2572012	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2572013	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2572015	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2572018	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2572019	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2572022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2572023	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2572024	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs474229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7809747	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829865	chr7:99430678-99755141	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
2	esv1830649	chr7:99430678-99755141	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs503115	TRIM4	cis	lung	GTEx
rs503115	TRIM4	cis	Whole Blood	GTEx
rs503115	TRIM4	cis	Stomach	GTEx
rs503115	TRIM4	cis	Artery Aorta	GTEx
rs503115	TRIM4	cis	Artery Tibial	GTEx
rs503115	TRIM4	cis	Adipose Subcutaneous	GTEx
rs503115	TRIM4	cis	Esophagus Muscularis	GTEx
rs503115	TRIM4	cis	Muscle Skeletal	GTEx
rs503115	TRIM4	cis	multi-tissue	Pritchard
rs503115	TRIM4	Cis_1M	lymphoblastoid	RTeQTL
rs503115	TRIM4	cis	Nerve Tibial	GTEx
rs503115	TRIM4	cis	Esophagus Mucosa	GTEx
rs503115	TRIM4	cis	Skin Sun Exposed Lower leg	GTEx
rs503115	TRIM4	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99433800-99465000	Strong transcription	Liver	Liver
2	chr7:99456600-99460600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr7:99457400-99459200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:99457400-99459400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:99458200-99459200	Enhancers	HMEC	breast
6	chr7:99458200-99489600	Weak transcription	Pancreas	Pancrea
7	chr7:99458600-99461600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:99458800-99460600	Enhancers	HepG2	liver

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