Variant report

Variant	rs11530166
Chromosome Location	chr11:47321966-47321967
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1051006	0.92[AMR][1000 genomes]
rs10769253	0.84[AMR][1000 genomes]
rs10838685	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs10838686	0.95[AMR][1000 genomes]
rs10838687	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10838689	0.92[AMR][1000 genomes]
rs11039189	0.82[AMR][1000 genomes]
rs11493249	0.82[AMR][1000 genomes]
rs12222581	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12574081	0.82[AMR][1000 genomes]
rs1449626	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs2254240	0.85[AMR][1000 genomes]
rs2279238	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs2290146	0.88[AMR][1000 genomes]
rs2290148	0.91[AMR][1000 genomes]
rs2305280	0.86[ASN][1000 genomes]
rs3729802	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs3729804	0.85[AMR][1000 genomes]
rs3729805	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs4752977	0.89[AMR][1000 genomes]
rs4752978	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs4752979	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4752983	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs58023804	0.84[AMR][1000 genomes]
rs59567949	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs6485751	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7124958	0.91[AMR][1000 genomes]
rs753992	0.84[AMR][1000 genomes]
rs753993	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7928073	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	esv3330173	chr11:47289256-47450681	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv3416377	chr11:47289276-47450651	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11530166	ACP2	cis	Thyroid	GTEx
rs11530166	ACP2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47294600-47355200	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr11:47295000-47323600	Strong transcription	Dnd41	blood
3	chr11:47295200-47323800	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr11:47295200-47326800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:47295400-47323800	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr11:47295400-47324800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr11:47295400-47324800	Strong transcription	Fetal Thymus	thymus
8	chr11:47295400-47340200	Strong transcription	Primary T helper cells PMA-I stimulated	--
9	chr11:47295400-47341000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr11:47295400-47352600	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr11:47295600-47323800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr11:47295600-47323800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr11:47295600-47324000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:47295600-47324200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:47295600-47324200	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr11:47295600-47338800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr11:47295800-47322000	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr11:47295800-47322400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr11:47295800-47340600	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr11:47295800-47352800	Strong transcription	Duodenum Mucosa	Duodenum
21	chr11:47296000-47322200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:47296000-47323000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:47296000-47324000	Strong transcription	Primary T cells from cord blood	blood
24	chr11:47296000-47353600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr11:47296200-47327000	Strong transcription	Adipose Nuclei	Adipose
26	chr11:47296200-47340400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr11:47296600-47323800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr11:47298800-47324200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr11:47299400-47324000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:47300000-47341200	Strong transcription	Placenta	Placenta
31	chr11:47303200-47340600	Strong transcription	Hela-S3	cervix
32	chr11:47307400-47322200	Weak transcription	Stomach Mucosa	stomach
33	chr11:47310400-47322600	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr11:47311200-47326400	Strong transcription	Skeletal Muscle Male	skeletal muscle
35	chr11:47311800-47348800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:47316200-47328200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr11:47316800-47324800	Strong transcription	HSMM	muscle
38	chr11:47317200-47325800	Weak transcription	Pancreas	Pancrea
39	chr11:47317600-47324200	Weak transcription	HSMMtube	muscle
40	chr11:47317600-47325800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr11:47317600-47326400	Weak transcription	Gastric	stomach
42	chr11:47317600-47326600	Weak transcription	Esophagus	oesophagus
43	chr11:47317800-47323800	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr11:47317800-47327000	Weak transcription	HMEC	breast
45	chr11:47318000-47329800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr11:47318200-47324400	Weak transcription	NHDF-Ad	bronchial
47	chr11:47318400-47324200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr11:47318600-47322000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr11:47318600-47326400	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr11:47318600-47326400	Weak transcription	NHLF	lung

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