Variant report

Variant	rs17567141
Chromosome Location	chr18:7978206-7978207
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10164212	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10502366	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10513901	0.84[JPT][hapmap]
rs10513902	0.93[CHB][hapmap];0.94[JPT][hapmap]
rs11081350	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11081351	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11081357	0.84[JPT][hapmap]
rs12326285	0.84[ASN][1000 genomes]
rs17567847	0.92[ASW][hapmap];0.88[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap]
rs1942952	0.92[CEU][hapmap];1.00[YRI][hapmap]
rs1942954	0.85[ASW][hapmap];0.88[CEU][hapmap];0.85[CHD][hapmap];0.82[JPT][hapmap];0.82[MEX][hapmap];0.91[TSI][hapmap]
rs28449906	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28505217	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28615299	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34861291	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35534506	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35608995	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4602134	0.89[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap];0.82[TSI][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62089513	0.84[ASN][1000 genomes]
rs7233195	0.84[JPT][hapmap]
rs7351012	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs948779	0.81[CHD][hapmap];0.84[JPT][hapmap]
rs9807748	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9807780	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9807802	0.86[CHB][hapmap];0.96[CHD][hapmap];0.94[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1062911	chr18:7561991-8088274	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv543637	chr18:7561991-8088274	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1064345	chr18:7562051-8088274	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv543638	chr18:7562051-8088274	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv521059	chr18:7962217-7981018	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17567141	MPPE1	cis	parietal	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7947200-7981400	Weak transcription	Fetal Stomach	stomach
2	chr18:7956000-7980800	Weak transcription	Fetal Thymus	thymus
3	chr18:7956000-7982400	Weak transcription	Fetal Muscle Leg	muscle
4	chr18:7957600-7980600	Weak transcription	Right Ventricle	heart
5	chr18:7959000-7987400	Weak transcription	Ovary	ovary
6	chr18:7959200-7982400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr18:7964800-7984200	Weak transcription	Adipose Nuclei	Adipose
8	chr18:7966000-7979600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr18:7966000-7980800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr18:7966000-7981600	Weak transcription	Thymus	Thymus
11	chr18:7966000-7982800	Weak transcription	A549	lung
12	chr18:7966000-7987000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr18:7966000-7989600	Weak transcription	Lung	lung
14	chr18:7966600-7979600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr18:7975200-7983400	Weak transcription	Fetal Heart	heart
16	chr18:7976400-7986600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr18:7977200-7979000	Enhancers	Left Ventricle	heart
18	chr18:7977600-7982600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr18:7977800-7985800	Weak transcription	Brain Anterior Caudate	brain
20	chr18:7977800-7986600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr18:7978000-7979200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr18:7978200-7986200	Weak transcription	Brain Hippocampus Middle	brain
23	chr18:7978200-7986400	Weak transcription	Aorta	Aorta
24	chr18:7978200-7986400	Weak transcription	Right Atrium	heart

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