Variant report

Variant	rs4567589
Chromosome Location	chr13:40160541-40160542
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1072605	0.87[AMR][1000 genomes]
rs1160321	0.81[CEU][hapmap]
rs2324342	0.92[EUR][1000 genomes]
rs2324343	0.92[EUR][1000 genomes]
rs2324344	1.00[CEU][hapmap];0.80[GIH][hapmap];0.86[MEX][hapmap];0.86[TSI][hapmap];0.92[EUR][1000 genomes]
rs2324345	0.81[CEU][hapmap];0.86[MEX][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes]
rs2324346	0.94[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];0.90[GIH][hapmap];0.93[JPT][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.96[TSI][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2324347	0.81[CEU][hapmap]
rs3858867	0.81[CEU][hapmap]
rs4142372	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs5010893	0.83[EUR][1000 genomes]
rs7319551	1.00[CEU][hapmap];0.80[AMR][1000 genomes]
rs7333587	0.81[MEX][hapmap]
rs927515	0.81[CEU][hapmap]
rs9315709	0.92[EUR][1000 genomes]
rs9548835	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9548838	0.83[AMR][1000 genomes]
rs9566462	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9576869	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9576870	0.82[AMR][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4567589	ALG5	cis	cerebellum	SCAN

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40140000-40169400	Weak transcription	Fetal Stomach	stomach
2	chr13:40140800-40165400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr13:40142000-40169400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr13:40142000-40169400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr13:40143200-40161800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr13:40143200-40170800	Weak transcription	Osteobl	bone
7	chr13:40146000-40171800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr13:40146200-40161400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr13:40147000-40162200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr13:40150000-40172600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr13:40150400-40170600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr13:40150600-40171800	Weak transcription	HSMM	muscle
13	chr13:40153000-40171800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr13:40153200-40171800	Weak transcription	HMEC	breast
15	chr13:40153400-40161000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr13:40153400-40161400	Weak transcription	Lung	lung
17	chr13:40153400-40161400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr13:40153600-40162200	Weak transcription	Psoas Muscle	Psoas
19	chr13:40153600-40170600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr13:40153600-40171800	Weak transcription	Aorta	Aorta
21	chr13:40155600-40162000	Weak transcription	Fetal Lung	lung
22	chr13:40155600-40170400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr13:40155600-40175800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr13:40156400-40171000	Weak transcription	Brain Hippocampus Middle	brain
25	chr13:40156400-40171000	Weak transcription	Brain Substantia Nigra	brain
26	chr13:40157000-40161400	Weak transcription	Right Atrium	heart
27	chr13:40157000-40172000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr13:40157200-40160800	Weak transcription	Fetal Muscle Leg	muscle
29	chr13:40157200-40162200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr13:40158200-40162400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr13:40158200-40165000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr13:40158200-40169400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr13:40158400-40161800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr13:40158400-40162200	Weak transcription	NHDF-Ad	bronchial
35	chr13:40158400-40169600	Weak transcription	Adipose Nuclei	Adipose
36	chr13:40158400-40171000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr13:40158600-40161400	Weak transcription	Ovary	ovary
38	chr13:40159200-40165000	Weak transcription	Colon Smooth Muscle	Colon
39	chr13:40159200-40170800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr13:40159400-40161800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr13:40159400-40169400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr13:40160000-40160800	Weak transcription	Left Ventricle	heart
43	chr13:40160400-40161400	Weak transcription	Fetal Heart	heart
44	chr13:40160400-40162600	Enhancers	Right Ventricle	heart
45	chr13:40160400-40162600	Enhancers	NHLF	lung

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