Variant report

Variant	rs7726679
Chromosome Location	chr5:112482649-112482650
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10463646	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12187866	0.81[CEU][hapmap];0.88[AFR][1000 genomes]
rs13156718	0.84[CEU][hapmap]
rs13168126	0.96[CEU][hapmap];0.84[CHB][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13170088	0.85[AMR][1000 genomes]
rs13183116	0.96[CEU][hapmap];0.86[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13190040	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13190424	0.82[AMR][1000 genomes]
rs2044238	0.81[CEU][hapmap];0.84[CHB][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2044239	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2165930	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2416303	0.94[CHB][hapmap];0.91[JPT][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2416305	0.95[CHB][hapmap];0.87[MEX][hapmap]
rs2416306	1.00[CHB][hapmap];0.87[MEX][hapmap]
rs35334140	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3922585	0.92[CEU][hapmap];0.83[AMR][1000 genomes]
rs4397121	0.82[ASW][hapmap]
rs4705539	0.89[ASW][hapmap];0.92[LWK][hapmap];1.00[YRI][hapmap]
rs4705543	0.85[CEU][hapmap]
rs4705546	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4705778	0.81[CEU][hapmap];0.83[MEX][hapmap]
rs4705782	0.89[ASW][hapmap];0.92[CEU][hapmap];0.82[GIH][hapmap];0.90[MKK][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes]
rs4705789	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4705794	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4705795	0.89[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.95[TSI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4705796	0.95[CHB][hapmap]
rs4705797	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6883605	0.92[CEU][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7720549	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7720866	0.81[CEU][hapmap];0.89[CHB][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs935159	1.00[CHB][hapmap];0.87[MEX][hapmap]

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	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv3428228	chr5:112481516-112482881	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7726679	AQPEP	cis	parietal	SCAN
rs7726679	TMEM232	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112467400-112493200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:112470200-112491000	Weak transcription	Fetal Kidney	kidney
3	chr5:112477000-112483200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:112477200-112483200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr5:112477200-112485400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:112477400-112486600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:112477400-112486600	Weak transcription	Right Atrium	heart
8	chr5:112477400-112489200	Weak transcription	Fetal Muscle Leg	muscle
9	chr5:112477400-112500600	Weak transcription	Fetal Stomach	stomach
10	chr5:112477600-112482800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:112477600-112482800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:112477600-112483000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr5:112478000-112483000	Weak transcription	Left Ventricle	heart
14	chr5:112478000-112485600	Weak transcription	Pancreas	Pancrea
15	chr5:112478000-112497000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr5:112478400-112483000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr5:112478600-112483000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:112478800-112483000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr5:112479200-112485200	Weak transcription	Liver	Liver
20	chr5:112479200-112490000	Weak transcription	Aorta	Aorta
21	chr5:112479400-112489600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr5:112479800-112485600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr5:112480400-112487200	Weak transcription	Right Ventricle	heart
24	chr5:112480600-112483600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:112480800-112483200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr5:112481000-112483000	Weak transcription	Psoas Muscle	Psoas
27	chr5:112481400-112496000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:112481600-112482800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:112481600-112483600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr5:112481600-112483600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:112481600-112483800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr5:112481600-112485400	Weak transcription	Ovary	ovary
33	chr5:112481800-112486400	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:112481800-112487800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr5:112482000-112482800	Weak transcription	HMEC	breast
36	chr5:112482000-112483000	Weak transcription	NHEK	skin
37	chr5:112482000-112483600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr5:112482000-112483600	Enhancers	Osteobl	bone
39	chr5:112482000-112484200	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr5:112482000-112484400	Enhancers	Fetal Heart	heart
41	chr5:112482400-112482800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:112482400-112483200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr5:112482400-112483400	Enhancers	Muscle Satellite Cultured Cells	--
44	chr5:112482400-112483600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr5:112482400-112483600	Enhancers	HSMMtube	muscle
46	chr5:112482400-112483600	Enhancers	NHDF-Ad	bronchial
47	chr5:112482600-112483400	Enhancers	NHLF	lung
48	chr5:112482600-112483800	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr5:112482600-112484000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr5:112482600-112491400	Weak transcription	Adipose Nuclei	Adipose

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