Variant report

Variant	rs9526811
Chromosome Location	chr13:52524560-52524561
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1051332	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1801243	0.82[EUR][1000 genomes]
rs1801244	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1951922	0.81[EUR][1000 genomes]
rs2031992	0.87[ASN][1000 genomes]
rs2104353	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2181891	0.82[EUR][1000 genomes]
rs2296246	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3742288	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3783241	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3825526	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3825527	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs750290	0.82[EUR][1000 genomes]
rs752570	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs754610	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7999812	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9526812	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9526814	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9535797	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9535812	0.81[EUR][1000 genomes]
rs9563078	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9568677	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9568681	0.82[EUR][1000 genomes]
rs9591438	0.88[ASN][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	nsv530718	chr13:52291802-52832752	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1044310	chr13:52321564-52643924	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1050117	chr13:52325116-52643924	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv934070	chr13:52362588-53174923	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv455888	chr13:52491193-52570728	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv561649	chr13:52491193-52570728	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9526811	ALG11	cis	Artery Tibial	GTEx

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52488200-52542200	Weak transcription	Brain Cingulate Gyrus	brain
2	chr13:52492600-52539600	Weak transcription	Fetal Brain Male	brain
3	chr13:52494400-52558000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr13:52494800-52527000	Weak transcription	Fetal Lung	lung
5	chr13:52501000-52550400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr13:52501600-52532400	Strong transcription	HepG2	liver
7	chr13:52502800-52529200	Weak transcription	Psoas Muscle	Psoas
8	chr13:52504200-52533600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr13:52504600-52537000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr13:52505600-52531800	Strong transcription	Liver	Liver
11	chr13:52505800-52527200	Strong transcription	Fetal Intestine Large	intestine
12	chr13:52506000-52527200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr13:52508000-52532200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr13:52509000-52530000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr13:52509200-52549800	Weak transcription	Brain Substantia Nigra	brain
16	chr13:52509200-52553000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr13:52509400-52548600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr13:52509800-52529600	Weak transcription	Small Intestine	intestine
19	chr13:52511800-52535800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr13:52512600-52544000	Weak transcription	Brain Angular Gyrus	brain
21	chr13:52513200-52553000	Weak transcription	Placenta	Placenta
22	chr13:52513400-52542000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr13:52513400-52555400	Weak transcription	Brain Hippocampus Middle	brain
24	chr13:52516000-52531800	Weak transcription	Fetal Kidney	kidney
25	chr13:52516000-52548000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr13:52516200-52524800	Weak transcription	Fetal Heart	heart
27	chr13:52516600-52554000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr13:52516800-52529200	Weak transcription	Pancreas	Pancrea
29	chr13:52516800-52555400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr13:52518400-52529200	Weak transcription	Colonic Mucosa	Colon
31	chr13:52518600-52528600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr13:52518600-52528600	Weak transcription	Stomach Mucosa	stomach
33	chr13:52518800-52527600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr13:52519400-52546000	Weak transcription	Spleen	Spleen
35	chr13:52520200-52529400	Weak transcription	Gastric	stomach
36	chr13:52520600-52525000	Weak transcription	Brain Germinal Matrix	brain
37	chr13:52520600-52528200	Weak transcription	Fetal Muscle Trunk	muscle
38	chr13:52520600-52528400	Weak transcription	Right Ventricle	heart
39	chr13:52520600-52553000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr13:52520800-52529000	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr13:52520800-52531400	Weak transcription	Brain Anterior Caudate	brain
42	chr13:52521600-52525200	Strong transcription	Placenta Amnion	Placenta Amnion
43	chr13:52522400-52524800	Strong transcription	Stomach Smooth Muscle	stomach
44	chr13:52523400-52525200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr13:52523400-52525200	ZNF genes & repeats	Primary T cells from cord blood	blood
46	chr13:52523600-52524800	Strong transcription	K562	blood
47	chr13:52523600-52525000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
48	chr13:52523600-52525200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
49	chr13:52523600-52525200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
50	chr13:52523600-52525400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood

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