Variant report

Variant	rs7333056
Chromosome Location	chr13:40148181-40148182
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1885759	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.85[YRI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2324337	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs35396912	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35801450	0.80[AMR][1000 genomes]
rs7322336	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7981547	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7982917	0.92[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];0.84[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9315701	0.96[CEU][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes]
rs9315702	0.96[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.93[GIH][hapmap];0.84[JPT][hapmap];0.85[MEX][hapmap];0.95[TSI][hapmap];0.87[YRI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9315703	0.92[CEU][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9315706	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9315707	1.00[CEU][hapmap];0.81[TSI][hapmap];0.87[EUR][1000 genomes]
rs9532396	0.91[EUR][1000 genomes]
rs9532399	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9548800	1.00[YRI][hapmap]
rs9548804	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9548805	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9548809	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9548817	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9548819	0.92[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];0.84[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9548820	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9548821	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9548822	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9548824	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9548825	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.95[GIH][hapmap];0.89[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9548826	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9548827	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9548829	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9548830	1.00[CEU][hapmap];0.81[MEX][hapmap];0.81[TSI][hapmap]
rs9548831	0.83[AMR][1000 genomes]
rs9548836	0.86[CHB][hapmap]
rs9603564	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7333056	FOXO1	cis	parietal	SCAN
rs7333056	LHFP	cis	lymphoblastoid	seeQTL

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40129000-40152800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:40138800-40152800	Weak transcription	Aorta	Aorta
3	chr13:40139200-40158000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr13:40140000-40169400	Weak transcription	Fetal Stomach	stomach
5	chr13:40140200-40149600	Weak transcription	Fetal Muscle Leg	muscle
6	chr13:40140400-40157800	Weak transcription	Adipose Nuclei	Adipose
7	chr13:40140600-40148600	Weak transcription	Fetal Lung	lung
8	chr13:40140800-40152800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr13:40140800-40165400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr13:40142000-40148800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr13:40142000-40156200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr13:40142000-40156200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr13:40142000-40169400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr13:40142000-40169400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr13:40142200-40150000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr13:40142200-40152600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr13:40143000-40149400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr13:40143000-40158200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr13:40143200-40157800	Weak transcription	NHDF-Ad	bronchial
20	chr13:40143200-40161800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr13:40143200-40170800	Weak transcription	Osteobl	bone
22	chr13:40145600-40153200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr13:40146000-40149800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr13:40146000-40152800	Weak transcription	NHLF	lung
25	chr13:40146000-40155400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr13:40146000-40171800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr13:40146200-40149000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr13:40146200-40149800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr13:40146200-40151000	Weak transcription	Ovary	ovary
30	chr13:40146200-40151800	Weak transcription	Lung	lung
31	chr13:40146200-40161400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr13:40146400-40149800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr13:40146400-40155200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr13:40147000-40148800	Weak transcription	Right Ventricle	heart
35	chr13:40147000-40149800	Weak transcription	Left Ventricle	heart
36	chr13:40147000-40149800	Weak transcription	Right Atrium	heart
37	chr13:40147000-40153200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr13:40147000-40162200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr13:40147200-40149200	Weak transcription	Fetal Heart	heart
40	chr13:40148000-40148400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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