Variant report

Variant	rs12706912
Chromosome Location	chr7:80252295-80252296
allele	A/C
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	MEF2A	chr7:80251749-80252369	SK-N-SH	brain:	n/a	chr7:80252026-80252047 chr7:80251861-80251878 chr7:80252029-80252040 chr7:80251863-80251878 chr7:80252031-80252040 chr7:80251861-80251876 chr7:80251863-80251878 chr7:80252030-80252041 chr7:80252020-80252028 chr7:80251863-80251877
2	JUND	chr7:80251125-80252323	SK-N-SH	brain:	n/a	chr7:80252020-80252029 chr7:80252016-80252027
3	MEF2A	chr7:80251667-80252325	SK-N-SH	brain:	n/a	chr7:80252026-80252047 chr7:80251861-80251878 chr7:80252029-80252040 chr7:80251863-80251878 chr7:80252031-80252040 chr7:80251861-80251876 chr7:80251863-80251878 chr7:80252030-80252041 chr7:80252020-80252028 chr7:80251863-80251877

Variant related genes	Relation type
CD36	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10480808	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs1049654	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs10499859	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs1054516	0.92[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1054517	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11770358	0.83[EUR][1000 genomes]
rs11770907	0.87[EUR][1000 genomes]
rs11771152	0.83[EUR][1000 genomes]
rs1194177	0.80[EUR][1000 genomes]
rs1194178	0.81[CEU][hapmap];0.80[EUR][1000 genomes]
rs1194182	0.84[CEU][hapmap]
rs13233631	0.83[EUR][1000 genomes]
rs13236689	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.87[JPT][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13438282	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs1358337	1.00[CEU][hapmap];0.89[TSI][hapmap];0.94[EUR][1000 genomes]
rs1413661	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs1527479	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs1537477	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs17154155	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1722502	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs1722505	0.89[CEU][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs1761661	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs1761662	0.85[CEU][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs1761665	0.89[CEU][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs1761667	0.85[EUR][1000 genomes]
rs1953298	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs1953299	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs2366855	0.92[CEU][hapmap];0.83[TSI][hapmap];0.87[EUR][1000 genomes]
rs3211821	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs3211839	0.95[EUR][1000 genomes]
rs3211842	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3211849	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs3211870	1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3211885	1.00[CEU][hapmap];0.98[GIH][hapmap];0.80[MEX][hapmap];0.87[TSI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3212160	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs4316098	0.85[EUR][1000 genomes]
rs4545029	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs4626520	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4728183	0.87[EUR][1000 genomes]
rs4731643	0.92[CEU][hapmap];0.83[TSI][hapmap];0.85[EUR][1000 genomes]
rs6961024	0.85[EUR][1000 genomes]
rs6961069	0.88[EUR][1000 genomes]
rs7807607	0.81[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12706912	CD36	cis	multi-tissue	Pritchard

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80242200-80252800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:80244400-80253000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:80244800-80253000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr7:80246800-80254000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr7:80251000-80253400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:80251200-80253000	Enhancers	Adipose Nuclei	Adipose
7	chr7:80251200-80253600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:80251200-80255800	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr7:80251400-80252600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:80251400-80252600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr7:80251400-80253400	Enhancers	NHDF-Ad	bronchial
12	chr7:80251400-80253400	Enhancers	NHLF	lung
13	chr7:80251600-80252400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:80251600-80252400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:80251600-80252400	Enhancers	HUVEC	blood vessel
16	chr7:80251600-80253200	Enhancers	HSMMtube	muscle
17	chr7:80251600-80253200	Enhancers	Osteobl	bone
18	chr7:80251600-80253400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:80251600-80253400	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr7:80251600-80253400	Enhancers	HSMM	muscle
21	chr7:80251600-80253600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:80251600-80253600	Enhancers	HMEC	breast
23	chr7:80251800-80252400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:80251800-80252400	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr7:80251800-80253000	Weak transcription	Left Ventricle	heart
26	chr7:80251800-80253200	Weak transcription	Psoas Muscle	Psoas
27	chr7:80251800-80253400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr7:80251800-80253400	Enhancers	Fetal Heart	heart
29	chr7:80251800-80253400	Enhancers	NHEK	skin
30	chr7:80251800-80260000	Weak transcription	Right Ventricle	heart
31	chr7:80252000-80252400	Enhancers	Hela-S3	cervix
32	chr7:80252000-80253000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr7:80252000-80253000	Weak transcription	Right Atrium	heart
34	chr7:80252000-80260000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:80252200-80252600	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr7:80252200-80252800	Enhancers	Muscle Satellite Cultured Cells	--
37	chr7:80252200-80252800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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