Variant report

Variant	rs6969989
Chromosome Location	chr7:80254410-80254411
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	TEAD4	chr7:80254127-80254450	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
CD36	TF binding region

Extended variants
information (count: 79 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10216184	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10238304	0.82[EUR][1000 genomes]
rs10240336	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10247260	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10261849	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10261980	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10265215	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10265457	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10265780	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10268340	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10268404	0.88[CEU][hapmap]
rs10268417	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs10268662	0.81[EUR][1000 genomes]
rs10268765	0.81[EUR][1000 genomes]
rs10275699	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12532196	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs12667404	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706916	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13222488	0.94[EUR][1000 genomes]
rs13225492	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs13228738	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13244883	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1464792	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs1524596	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1722506	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs1722507	0.88[CEU][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs17263407	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1761663	0.88[CEU][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes]
rs1949818	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs1953300	0.91[EUR][1000 genomes]
rs1984112	0.97[EUR][1000 genomes]
rs2030710	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2030711	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2065666	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2065668	0.89[EUR][1000 genomes]
rs2151916	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2691199	0.81[EUR][1000 genomes]
rs2691200	0.81[EUR][1000 genomes]
rs28369066	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28600997	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28645928	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3173800	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3211816	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs3211820	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs3211822	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs3211827	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3211834	0.92[CEU][hapmap]
rs3211871	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3211886	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.89[TSI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34493313	0.98[EUR][1000 genomes]
rs34801616	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62461673	0.94[EUR][1000 genomes]
rs62461690	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62461693	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62461695	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62461724	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6965070	0.86[EUR][1000 genomes]
rs6968407	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs6972923	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs6973242	0.96[CEU][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs7784648	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7789369	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7795092	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7806711	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7807445	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs997906	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv831043	chr7:80119414-80322092	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv948605	chr7:80119690-80298887	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1020682	chr7:80120651-80297697	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv464606	chr7:80177084-80311794	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv607682	chr7:80177084-80311794	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv1025144	chr7:80197286-80271841	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1026688	chr7:80231657-80307236	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
9	nsv1020745	chr7:80231657-80309495	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
10	nsv888526	chr7:80240943-80354229	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
11	nsv888527	chr7:80248029-80279460	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv888528	chr7:80252518-80280117	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv888529	chr7:80252518-80295701	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6969989	DPF3	trans	parietal	SCAN
rs6969989	CD36	cis	multi-tissue	Pritchard

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80251200-80255800	Enhancers	Skeletal Muscle Male	skeletal muscle
2	chr7:80251800-80260000	Weak transcription	Right Ventricle	heart
3	chr7:80252000-80260000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:80253000-80254800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr7:80253400-80256200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:80253400-80256200	Weak transcription	NHDF-Ad	bronchial
7	chr7:80253400-80259400	Weak transcription	Fetal Lung	lung
8	chr7:80253600-80255000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:80253600-80256000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:80253600-80256000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:80253600-80256200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr7:80253600-80256200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:80253600-80256200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:80253800-80254600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:80253800-80254800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr7:80253800-80254800	Enhancers	HepG2	liver
17	chr7:80253800-80255600	Enhancers	Adipose Nuclei	Adipose
18	chr7:80254000-80254600	Enhancers	Fetal Heart	heart
19	chr7:80254000-80255800	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr7:80254200-80257000	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr7:80254400-80254800	Active TSS	Left Ventricle	heart
22	chr7:80254400-80255400	Active TSS	Right Atrium	heart
23	chr7:80254400-80258000	Weak transcription	Psoas Muscle	Psoas

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