Variant report

Variant	rs7319551
Chromosome Location	chr13:40161459-40161460
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1072605	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1160321	0.81[CEU][hapmap];0.86[GIH][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes]
rs1885758	0.86[GIH][hapmap]
rs2324344	1.00[CEU][hapmap]
rs2324345	0.81[CEU][hapmap]
rs2324346	1.00[CEU][hapmap]
rs2324347	0.81[CEU][hapmap];0.82[CHB][hapmap];0.86[GIH][hapmap];0.88[JPT][hapmap];0.84[MEX][hapmap];0.91[TSI][hapmap];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2324349	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3858867	0.81[CEU][hapmap];0.86[GIH][hapmap];0.84[MEX][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes]
rs4142372	1.00[CEU][hapmap]
rs4456374	0.82[CHB][hapmap];0.88[JPT][hapmap];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4567589	1.00[CEU][hapmap];0.80[AMR][1000 genomes]
rs61956469	0.80[EUR][1000 genomes]
rs6563720	0.86[GIH][hapmap]
rs6563728	0.84[EUR][1000 genomes]
rs7331023	0.86[GIH][hapmap]
rs927515	0.81[CEU][hapmap];0.86[GIH][hapmap];0.84[MEX][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9315704	0.86[GIH][hapmap]
rs9548835	1.00[CEU][hapmap];0.80[AMR][1000 genomes]
rs9566448	1.00[GIH][hapmap]
rs9566462	1.00[CEU][hapmap];0.81[MEX][hapmap]
rs9576869	1.00[CEU][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	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
rs7319551	ALG5	cis	cerebellum	SCAN

Chromatin state (count:46 , 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	chr13:40147000-40162200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr13:40150000-40172600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr13:40150400-40170600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr13:40150600-40171800	Weak transcription	HSMM	muscle
12	chr13:40153000-40171800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr13:40153200-40171800	Weak transcription	HMEC	breast
14	chr13:40153600-40162200	Weak transcription	Psoas Muscle	Psoas
15	chr13:40153600-40170600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr13:40153600-40171800	Weak transcription	Aorta	Aorta
17	chr13:40155600-40162000	Weak transcription	Fetal Lung	lung
18	chr13:40155600-40170400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr13:40155600-40175800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr13:40156400-40171000	Weak transcription	Brain Hippocampus Middle	brain
21	chr13:40156400-40171000	Weak transcription	Brain Substantia Nigra	brain
22	chr13:40157000-40172000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr13:40157200-40162200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr13:40158200-40162400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr13:40158200-40165000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr13:40158200-40169400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr13:40158400-40161800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr13:40158400-40162200	Weak transcription	NHDF-Ad	bronchial
29	chr13:40158400-40169600	Weak transcription	Adipose Nuclei	Adipose
30	chr13:40158400-40171000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr13:40159200-40165000	Weak transcription	Colon Smooth Muscle	Colon
32	chr13:40159200-40170800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr13:40159400-40161800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr13:40159400-40169400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr13:40160400-40162600	Enhancers	Right Ventricle	heart
36	chr13:40160400-40162600	Enhancers	NHLF	lung
37	chr13:40160800-40162400	Enhancers	Fetal Muscle Leg	muscle
38	chr13:40160800-40162400	Enhancers	Left Ventricle	heart
39	chr13:40161200-40175000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr13:40161400-40162200	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr13:40161400-40162200	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr13:40161400-40162400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr13:40161400-40162400	Enhancers	Lung	lung
44	chr13:40161400-40162400	Enhancers	Ovary	ovary
45	chr13:40161400-40162400	Enhancers	Right Atrium	heart
46	chr13:40161400-40163200	Enhancers	Fetal Heart	heart

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