Variant report

Variant	rs10505173
Chromosome Location	chr8:113486216-113486217
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	TCF7L2	chr8:113486029-113486593	HCT-116	colon:	n/a	chr8:113486237-113486247 chr8:113486233-113486249 chr8:113486233-113486249 chr8:113486237-113486246 chr8:113486234-113486248 chr8:113486237-113486244

Variant related genes	Relation type
ENSG00000264794	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10087242	0.83[AMR][1000 genomes]
rs10097465	0.84[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.82[MEX][hapmap];0.94[TSI][hapmap]
rs10106343	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10108081	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10109807	0.85[AMR][1000 genomes]
rs10111988	0.85[AMR][1000 genomes]
rs1020597	0.83[AMR][1000 genomes]
rs1021438	0.90[MEX][hapmap];0.81[TSI][hapmap]
rs10216803	0.90[MEX][hapmap];0.80[TSI][hapmap]
rs10505174	0.90[MEX][hapmap];0.81[TSI][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10505175	0.90[MEX][hapmap]
rs11779960	0.85[AMR][1000 genomes]
rs11780166	0.83[AMR][1000 genomes]
rs11783041	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11787085	0.85[AMR][1000 genomes]
rs1388962	0.81[AMR][1000 genomes]
rs1563064	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16883689	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs16883708	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16883735	0.83[AMR][1000 genomes]
rs16883746	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16883753	0.90[MEX][hapmap];0.81[TSI][hapmap]
rs1907802	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2045033	0.90[MEX][hapmap];0.80[TSI][hapmap];0.83[AMR][1000 genomes]
rs2123487	0.93[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2123489	0.90[MEX][hapmap];0.81[TSI][hapmap];0.84[AMR][1000 genomes]
rs2167777	0.85[AMR][1000 genomes]
rs4363229	0.82[AMR][1000 genomes]
rs5004568	0.80[AMR][1000 genomes]
rs62516467	0.82[AMR][1000 genomes]
rs62516475	0.80[AMR][1000 genomes]
rs62516479	0.81[AMR][1000 genomes]
rs62516481	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6986274	0.90[MEX][hapmap];0.81[TSI][hapmap]
rs7006962	0.90[MEX][hapmap]
rs7018185	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7818544	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7820539	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.84[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7824183	0.82[AMR][1000 genomes]
rs7832171	0.85[AMR][1000 genomes]
rs7835735	0.81[MEX][hapmap];0.81[TSI][hapmap];0.83[AMR][1000 genomes]
rs7836340	0.83[AMR][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	nsv533857	chr8:112819659-113801258	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1022457	chr8:113071774-113811177	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	esv2755868	chr8:113282795-113634842	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2753595	chr8:113283214-114190390	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	esv2754232	chr8:113294967-113634842	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10505173	TRHR	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:113484200-113496200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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