Variant report

Variant	rs7333587
Chromosome Location	chr13:40123073-40123074
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1022808	0.93[CEU][hapmap];0.84[MEX][hapmap];0.82[EUR][1000 genomes]
rs1160321	0.84[MEX][hapmap];0.83[AMR][1000 genomes]
rs1570414	0.87[CEU][hapmap]
rs1570417	0.92[ASN][1000 genomes]
rs1885758	0.93[CEU][hapmap];0.84[MEX][hapmap];0.84[AMR][1000 genomes]
rs1885760	0.93[CEU][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1885762	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2324342	0.85[AMR][1000 genomes]
rs2324343	0.85[AMR][1000 genomes]
rs2324344	0.93[GIH][hapmap];0.81[JPT][hapmap];0.84[MEX][hapmap];0.85[AMR][1000 genomes]
rs2324345	0.81[CHB][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap];0.84[MEX][hapmap];0.85[AMR][1000 genomes]
rs2324346	0.83[GIH][hapmap];0.81[MEX][hapmap]
rs2875329	0.93[CEU][hapmap];0.91[EUR][1000 genomes]
rs4142372	0.81[CHB][hapmap];0.81[JPT][hapmap];0.85[AMR][1000 genomes]
rs4325425	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4520717	0.93[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4567589	0.81[MEX][hapmap]
rs4941933	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4941934	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4941935	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4943674	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs5010893	0.90[AMR][1000 genomes]
rs61956469	0.83[AMR][1000 genomes]
rs6563720	0.93[CEU][hapmap];0.84[MEX][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6563721	0.91[EUR][1000 genomes]
rs6563726	0.93[CEU][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6563727	0.93[CEU][hapmap];0.84[AMR][1000 genomes]
rs7324883	0.93[CEU][hapmap];0.84[AMR][1000 genomes]
rs7331023	0.93[CEU][hapmap];0.84[MEX][hapmap];0.84[AMR][1000 genomes]
rs7338428	0.81[AMR][1000 genomes]
rs7985507	0.84[AMR][1000 genomes]
rs7986879	0.97[ASN][1000 genomes]
rs7988729	0.93[CEU][hapmap];0.83[AMR][1000 genomes]
rs912050	0.93[CEU][hapmap];0.84[AMR][1000 genomes]
rs9285135	0.91[EUR][1000 genomes]
rs9285136	0.93[CEU][hapmap];0.91[EUR][1000 genomes]
rs9315698	0.91[EUR][1000 genomes]
rs9315704	0.93[CEU][hapmap];0.84[MEX][hapmap];0.84[AMR][1000 genomes]
rs9315705	0.93[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap];0.88[YRI][hapmap];0.95[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9315709	0.85[AMR][1000 genomes]
rs9532393	0.97[ASN][1000 genomes]
rs9548796	0.93[CEU][hapmap];0.81[EUR][1000 genomes]
rs9548807	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9566448	0.81[CEU][hapmap];0.84[MEX][hapmap];0.81[AMR][1000 genomes]
rs9566457	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9576865	0.93[CEU][hapmap]
rs9576869	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs978135	0.93[CEU][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]

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	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
3	esv2421708	chr13:40118603-40125453	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	inside rSNPs	diseases
4	nsv517093	chr13:40119410-40123073	Enhancers Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases
5	nsv523936	chr13:40119410-40128845	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv2760292	chr13:40122096-40125453	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7333587	ALG5	cis	cerebellum	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40106800-40124000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr13:40107800-40140200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr13:40111200-40133200	Weak transcription	Aorta	Aorta
4	chr13:40111400-40128200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr13:40111600-40128600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr13:40113800-40128600	Weak transcription	Ovary	ovary
7	chr13:40114000-40131200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr13:40114200-40125200	Weak transcription	HSMM	muscle
9	chr13:40114400-40136000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr13:40115400-40133200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr13:40115600-40133600	Weak transcription	Osteobl	bone
12	chr13:40117000-40130000	Weak transcription	Fetal Muscle Leg	muscle
13	chr13:40117000-40130400	Weak transcription	HSMMtube	muscle
14	chr13:40117600-40126400	Weak transcription	Right Ventricle	heart
15	chr13:40117800-40128600	Weak transcription	Right Atrium	heart
16	chr13:40117800-40131200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr13:40118800-40126400	Weak transcription	Brain Substantia Nigra	brain
18	chr13:40119800-40130200	Weak transcription	Fetal Heart	heart
19	chr13:40120000-40125600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr13:40120000-40131600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr13:40121200-40125200	Weak transcription	Left Ventricle	heart
22	chr13:40121400-40136200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr13:40122400-40123200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr13:40122600-40123200	Enhancers	HMEC	breast
25	chr13:40122600-40123400	Enhancers	NHEK	skin
26	chr13:40122600-40125200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr13:40123000-40125000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr13:40123000-40131800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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