Variant report

Variant	rs10500616
Chromosome Location	chr11:5109946-5109947
allele	G/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	MAFK	chr11:5109753-5110002	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
OR52E3P	TF binding region

Extended variants
information (count: 55 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10500617	0.86[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs10768545	0.82[JPT][hapmap]
rs10768550	0.86[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.88[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10768575	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs10837295	0.84[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10837299	0.86[CEU][hapmap]
rs10837328	0.85[CEU][hapmap]
rs10837329	1.00[CHB][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs10837334	0.94[CHB][hapmap];0.84[JPT][hapmap];0.93[ASN][1000 genomes]
rs10837335	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs10837340	0.87[CEU][hapmap]
rs11035684	0.92[ASN][1000 genomes]
rs11035710	0.90[ASN][1000 genomes]
rs11035736	0.89[ASN][1000 genomes]
rs11035740	0.89[ASN][1000 genomes]
rs11035743	0.89[ASN][1000 genomes]
rs11035765	1.00[CHB][hapmap];0.90[CHD][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs11035774	0.80[JPT][hapmap];0.84[ASN][1000 genomes]
rs11530045	0.90[ASN][1000 genomes]
rs12221996	1.00[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs12360617	0.89[ASN][1000 genomes]
rs12364567	0.90[ASN][1000 genomes]
rs12420900	0.90[ASN][1000 genomes]
rs1463379	0.87[CEU][hapmap]
rs1463380	0.93[ASN][1000 genomes]
rs1463381	0.95[CHB][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs2472527	0.81[JPT][hapmap]
rs2472530	0.81[JPT][hapmap]
rs2499948	0.82[CHD][hapmap]
rs2499949	0.81[JPT][hapmap]
rs2499951	0.81[JPT][hapmap]
rs4278501	0.89[ASN][1000 genomes]
rs4294557	1.00[CHB][hapmap];0.90[CHD][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs4370933	1.00[CHB][hapmap];0.87[CHD][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs4617575	0.89[ASN][1000 genomes]
rs61880360	0.89[ASN][1000 genomes]
rs7350513	0.90[CHB][hapmap];0.91[CHD][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs7931931	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054847	chr11:4642875-5200656	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
2	esv2758254	chr11:4907893-5135331	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
3	esv2759799	chr11:4907893-5135331	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
4	nsv1046693	chr11:4958462-5177455	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
5	nsv540938	chr11:4958462-5177455	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
6	esv2760169	chr11:4961518-5233821	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
7	nsv553219	chr11:5026200-5214413	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
8	nsv896920	chr11:5068137-5221825	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
9	esv2422503	chr11:5087292-5125991	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
10	nsv1054412	chr11:5087318-5126477	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
11	nsv467667	chr11:5091633-5121790	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
12	nsv553220	chr11:5091633-5121790	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
13	nsv896922	chr11:5091633-5121790	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
14	nsv553221	chr11:5091882-5116128	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
15	nsv896923	chr11:5091882-5199208	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
16	nsv896924	chr11:5098714-5221825	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
17	nsv553222	chr11:5102476-5151516	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10500616	OR51A7	cis	parietal	SCAN
rs10500616	MRPL23	cis	parietal	SCAN
rs10500616	OR56B4	cis	cerebellum	SCAN
rs10500616	TRIM3	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5108800-5110000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:5109600-5110600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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