Variant report

Variant	rs1322761
Chromosome Location	chr6:72041948-72041949
allele	C/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	GATA3	chr6:72041771-72042240	SK-N-SH	brain:	n/a	chr6:72042172-72042180 chr6:72042082-72042089
2	MAFK	chr6:72041728-72042033	IMR90	lung:	n/a	chr6:72041909-72041918 chr6:72041908-72041918 chr6:72041822-72041837
3	EP300	chr6:72041742-72042186	SK-N-SH_RA	brain:	n/a	chr6:72042037-72042046 chr6:72041908-72041917 chr6:72041823-72041832 chr6:72041877-72041891
4	JUND	chr6:72041752-72042091	HepG2	liver:	n/a	chr6:72041982-72041994 chr6:72041906-72041917 chr6:72041908-72041915 chr6:72041908-72041917 chr6:72041908-72041916
5	EP300	chr6:72041726-72042185	SK-N-SH_RA	brain:	n/a	chr6:72042037-72042046 chr6:72041908-72041917 chr6:72041823-72041832 chr6:72041877-72041891
6	FOS	chr6:72041876-72041965	MCF10A-Er-Src	breast:	n/a	chr6:72041906-72041917 chr6:72041908-72041915 chr6:72041908-72041917 chr6:72041908-72041916
7	MAFK	chr6:72041782-72042033	HepG2	liver:	n/a	chr6:72041909-72041918 chr6:72041908-72041918 chr6:72041822-72041837
8	FOS	chr6:72041845-72042014	MCF10A-Er-Src	breast:	n/a	chr6:72041982-72041994 chr6:72041906-72041917 chr6:72041908-72041915 chr6:72041908-72041917 chr6:72041908-72041916
9	FOS	chr6:72041724-72042068	HUVEC	blood vessel:	n/a	chr6:72041982-72041994 chr6:72041906-72041917 chr6:72041908-72041915 chr6:72041908-72041917 chr6:72041908-72041916
10	FOS	chr6:72041788-72041969	MCF10A-Er-Src	breast:	n/a	chr6:72041906-72041917 chr6:72041908-72041915 chr6:72041908-72041917 chr6:72041908-72041916
11	JUND	chr6:72041566-72042262	SK-N-SH	brain:	n/a	chr6:72041982-72041994 chr6:72041639-72041648 chr6:72041906-72041917 chr6:72041908-72041915 chr6:72041908-72041917 chr6:72041908-72041916

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:72037856..72040073-chr6:72041777..72043546,2	K562	blood:

Variant related genes	Relation type
ENSG00000232295	TF binding region
ENSG00000232295	Chromatin interaction
ENSG00000230597	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1022744	1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16881116	0.85[ASN][1000 genomes]
rs1881034	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2208845	0.83[JPT][hapmap]
rs2273888	0.88[JPT][hapmap]
rs3756934	0.86[ASN][1000 genomes]
rs6935796	0.83[JPT][hapmap]
rs7753757	0.94[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.92[TSI][hapmap];0.96[ASN][1000 genomes]
rs9294899	0.88[JPT][hapmap]
rs9342829	1.00[JPT][hapmap]
rs9342831	0.85[ASN][1000 genomes]
rs9346462	0.96[ASN][1000 genomes]
rs9346463	0.81[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9346464	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9354993	0.87[ASN][1000 genomes]
rs9354994	0.89[ASN][1000 genomes]
rs9354996	0.81[CHB][hapmap];0.85[CHD][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs9360448	0.87[ASN][1000 genomes]
rs9364152	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs9364153	1.00[JPT][hapmap]
rs9364160	0.86[ASN][1000 genomes]
rs9364162	0.80[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1322761	OGFRL1	cis	cerebellum	SCAN
rs1322761	OGFRL1	cis	multi-tissue	Pritchard

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:72004400-72043000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr6:72018000-72043200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:72018000-72043200	Weak transcription	HSMM	muscle
4	chr6:72020200-72043600	Weak transcription	HSMMtube	muscle
5	chr6:72031600-72056600	Weak transcription	Placenta	Placenta
6	chr6:72031600-72060200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr6:72031600-72077400	Weak transcription	Pancreas	Pancrea
8	chr6:72033800-72046000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr6:72034200-72053400	Weak transcription	Psoas Muscle	Psoas
10	chr6:72034200-72058600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:72034400-72052000	Weak transcription	Adipose Nuclei	Adipose
12	chr6:72034800-72060400	Weak transcription	Left Ventricle	heart
13	chr6:72036600-72043400	Weak transcription	A549	lung
14	chr6:72036600-72055800	Weak transcription	Fetal Lung	lung
15	chr6:72036800-72043200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr6:72037400-72042600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:72037600-72042400	Weak transcription	NHDF-Ad	bronchial
18	chr6:72037600-72042800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr6:72039200-72047800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr6:72039400-72044600	Weak transcription	Fetal Kidney	kidney
21	chr6:72039400-72060600	Weak transcription	Aorta	Aorta
22	chr6:72039600-72042400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr6:72040600-72056600	Weak transcription	Lung	lung
24	chr6:72041000-72043400	Weak transcription	Brain Hippocampus Middle	brain
25	chr6:72041600-72044800	Enhancers	NHLF	lung
26	chr6:72041800-72042000	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr6:72041800-72042200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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