Variant report

Variant	rs4705797
Chromosome Location	chr5:112486410-112486411
allele	C/G
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: 33 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10068491	0.83[CHB][hapmap]
rs10463646	0.87[EUR][1000 genomes]
rs12187866	0.80[CEU][hapmap]
rs13156718	0.88[CEU][hapmap]
rs13168126	0.96[CEU][hapmap];0.94[CHB][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13170088	0.81[AMR][1000 genomes]
rs13183116	0.96[CEU][hapmap];0.89[CHB][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13190040	0.87[EUR][1000 genomes]
rs1562016	0.81[AMR][1000 genomes]
rs2044238	0.81[CEU][hapmap];0.83[CHB][hapmap];0.87[EUR][1000 genomes]
rs2044239	0.87[EUR][1000 genomes]
rs2165930	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2416303	0.88[CHB][hapmap];0.87[EUR][1000 genomes]
rs2416305	0.94[CHB][hapmap];0.87[MEX][hapmap];0.80[AMR][1000 genomes]
rs2416306	0.94[CHB][hapmap];0.87[MEX][hapmap];0.80[TSI][hapmap];0.80[AMR][1000 genomes]
rs35334140	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3922585	0.92[CEU][hapmap];0.82[JPT][hapmap]
rs4705542	0.83[TSI][hapmap]
rs4705543	0.88[CEU][hapmap];0.83[TSI][hapmap]
rs4705546	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4705778	0.80[CEU][hapmap];0.84[MEX][hapmap]
rs4705782	0.92[CEU][hapmap];0.90[TSI][hapmap]
rs4705789	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4705794	0.87[EUR][1000 genomes]
rs4705795	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4705796	0.94[CHB][hapmap];0.81[AMR][1000 genomes]
rs6883605	0.92[CEU][hapmap];0.81[AMR][1000 genomes]
rs7707546	0.81[AMR][1000 genomes]
rs7720549	0.87[EUR][1000 genomes]
rs7720866	0.80[CEU][hapmap];0.88[CHB][hapmap];0.84[EUR][1000 genomes]
rs7726679	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]
rs935159	0.94[CHB][hapmap];0.87[MEX][hapmap];0.80[AMR][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4705797	TMEM232	cis	parietal	SCAN
rs4705797	AQPEP	cis	parietal	SCAN

Chromatin state (count:44 , 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	chr5:112477400-112486600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:112477400-112486600	Weak transcription	Right Atrium	heart
5	chr5:112477400-112489200	Weak transcription	Fetal Muscle Leg	muscle
6	chr5:112477400-112500600	Weak transcription	Fetal Stomach	stomach
7	chr5:112478000-112497000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr5:112479200-112490000	Weak transcription	Aorta	Aorta
9	chr5:112479400-112489600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr5:112480400-112487200	Weak transcription	Right Ventricle	heart
11	chr5:112481400-112496000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:112481800-112487800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:112482600-112491400	Weak transcription	Adipose Nuclei	Adipose
14	chr5:112483000-112496800	Weak transcription	HMEC	breast
15	chr5:112483200-112495800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:112483400-112488800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:112483400-112489200	Weak transcription	NHLF	lung
18	chr5:112483400-112490000	Weak transcription	Left Ventricle	heart
19	chr5:112483400-112491800	Weak transcription	NHEK	skin
20	chr5:112483400-112494600	Weak transcription	Psoas Muscle	Psoas
21	chr5:112483600-112486600	Weak transcription	Gastric	stomach
22	chr5:112483600-112488800	Weak transcription	NHDF-Ad	bronchial
23	chr5:112483600-112489200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:112484000-112487000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr5:112484200-112491800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:112484200-112495600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr5:112485200-112487000	Strong transcription	Liver	Liver
28	chr5:112485200-112488200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:112485400-112486800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:112485400-112487200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr5:112485400-112490400	Enhancers	Ovary	ovary
32	chr5:112485600-112486800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr5:112485800-112486600	Weak transcription	Pancreas	Pancrea
34	chr5:112485800-112487000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr5:112485800-112487600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:112485800-112487800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr5:112485800-112488600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:112485800-112492200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr5:112485800-112495200	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr5:112486000-112488600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:112486200-112487400	Weak transcription	Fetal Heart	heart
42	chr5:112486400-112486600	Weak transcription	Lung	lung
43	chr5:112486400-112487000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr5:112486400-112487200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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