Variant report

Variant	rs1947026
Chromosome Location	chr5:112487137-112487138
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112485402..112488072-chr5:112495550..112498480,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10068491	1.00[CEU][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10519334	0.86[CEU][hapmap];0.88[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10519336	0.91[CEU][hapmap];0.84[TSI][hapmap]
rs1562016	0.85[EUR][1000 genomes]
rs2165929	1.00[CEU][hapmap];0.82[GIH][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs2165931	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2416305	0.83[CHD][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs2416306	0.81[CHD][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs2900067	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs4634343	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4705783	0.83[JPT][hapmap]
rs4705796	0.83[CEU][hapmap];0.85[EUR][1000 genomes]
rs7707546	0.85[EUR][1000 genomes]
rs935159	0.83[CHD][hapmap];0.85[TSI][hapmap];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1947026	AQPEP	cis	parietal	SCAN

Chromatin state (count:41 , 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	chr5:112477400-112489200	Weak transcription	Fetal Muscle Leg	muscle
4	chr5:112477400-112500600	Weak transcription	Fetal Stomach	stomach
5	chr5:112478000-112497000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:112479200-112490000	Weak transcription	Aorta	Aorta
7	chr5:112479400-112489600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr5:112480400-112487200	Weak transcription	Right Ventricle	heart
9	chr5:112481400-112496000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:112481800-112487800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:112482600-112491400	Weak transcription	Adipose Nuclei	Adipose
12	chr5:112483000-112496800	Weak transcription	HMEC	breast
13	chr5:112483200-112495800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:112483400-112488800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:112483400-112489200	Weak transcription	NHLF	lung
16	chr5:112483400-112490000	Weak transcription	Left Ventricle	heart
17	chr5:112483400-112491800	Weak transcription	NHEK	skin
18	chr5:112483400-112494600	Weak transcription	Psoas Muscle	Psoas
19	chr5:112483600-112488800	Weak transcription	NHDF-Ad	bronchial
20	chr5:112483600-112489200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:112484200-112491800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:112484200-112495600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr5:112485200-112488200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:112485400-112487200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr5:112485400-112490400	Enhancers	Ovary	ovary
26	chr5:112485800-112487600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:112485800-112487800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr5:112485800-112488600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:112485800-112492200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr5:112485800-112495200	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr5:112486000-112488600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:112486200-112487400	Weak transcription	Fetal Heart	heart
33	chr5:112486400-112487200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:112486600-112488200	Enhancers	Right Atrium	heart
35	chr5:112486800-112487800	Weak transcription	Pancreas	Pancrea
36	chr5:112486800-112494600	Weak transcription	Lung	lung
37	chr5:112486800-112500400	Weak transcription	Gastric	stomach
38	chr5:112487000-112487200	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr5:112487000-112488800	Weak transcription	Liver	Liver
40	chr5:112487000-112489200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr5:112487000-112489400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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