Variant report

Variant	rs11212527
Chromosome Location	chr11:108021205-108021206
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10789656	0.86[EUR][1000 genomes]
rs10890821	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11212538	0.82[EUR][1000 genomes]
rs11212543	0.82[EUR][1000 genomes]
rs11212546	0.81[EUR][1000 genomes]
rs11605442	0.81[EUR][1000 genomes]
rs12575358	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12787445	0.85[EUR][1000 genomes]
rs1850730	0.82[EUR][1000 genomes]
rs1893812	0.82[EUR][1000 genomes]
rs1973723	0.88[EUR][1000 genomes]
rs3781868	0.81[EUR][1000 genomes]
rs3781869	0.81[EUR][1000 genomes]
rs4623864	0.82[EUR][1000 genomes]
rs4753833	0.80[EUR][1000 genomes]
rs4754299	0.85[EUR][1000 genomes]
rs4754301	0.82[EUR][1000 genomes]
rs4754305	0.81[EUR][1000 genomes]
rs6589004	0.88[AFR][1000 genomes]
rs6589007	0.82[EUR][1000 genomes]
rs7395528	0.81[EUR][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	nsv533794	chr11:107349817-108093259	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS 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	45 gene(s)	inside rSNPs	diseases
2	esv3372573	chr11:107880365-108022895	Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1039549	chr11:107950572-108034548	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv1040522	chr11:107969357-108049672	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11212527	ACAT1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107993200-108021800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:107993200-108030000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:107993200-108069600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:107994000-108029600	Weak transcription	Fetal Brain Male	brain
5	chr11:107996000-108021400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr11:108002200-108069600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr11:108002400-108040200	Strong transcription	Liver	Liver
8	chr11:108002800-108024800	Strong transcription	Fetal Muscle Leg	muscle
9	chr11:108002800-108027000	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr11:108002800-108027200	Strong transcription	Fetal Muscle Trunk	muscle
11	chr11:108002800-108048000	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr11:108003600-108040800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr11:108004000-108022000	Strong transcription	Brain Hippocampus Middle	brain
14	chr11:108004200-108035000	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr11:108004400-108037600	Strong transcription	Adipose Nuclei	Adipose
16	chr11:108005800-108040800	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr11:108006600-108022800	Strong transcription	Skeletal Muscle Female	skeletal muscle
18	chr11:108006800-108023800	Strong transcription	Skeletal Muscle Male	skeletal muscle
19	chr11:108007400-108033600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr11:108007600-108023000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr11:108007800-108022400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr11:108007800-108032000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:108008200-108023000	Strong transcription	Fetal Stomach	stomach
24	chr11:108008600-108031200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:108009000-108022800	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr11:108009000-108041000	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr11:108009200-108033400	Strong transcription	Duodenum Mucosa	Duodenum
28	chr11:108009200-108071000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr11:108009400-108022400	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr11:108009400-108023200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr11:108009400-108028000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:108009400-108031200	Strong transcription	Primary B cells from peripheral blood	blood
33	chr11:108009400-108040400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr11:108009400-108062600	Strong transcription	Primary T cells from cord blood	blood
35	chr11:108009400-108068400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr11:108009600-108023000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr11:108009600-108023000	Strong transcription	Brain Anterior Caudate	brain
38	chr11:108009600-108023400	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr11:108009600-108027200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr11:108009600-108041800	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr11:108009600-108049000	Strong transcription	Placenta	Placenta
42	chr11:108009600-108068200	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr11:108009800-108048000	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr11:108010400-108022000	Strong transcription	NHDF-Ad	bronchial
45	chr11:108010600-108023000	Strong transcription	Fetal Brain Female	brain
46	chr11:108010600-108071200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:108010800-108022200	Strong transcription	Stomach Smooth Muscle	stomach
48	chr11:108010800-108023200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr11:108010800-108038800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr11:108010800-108041400	Strong transcription	HUES48 Cell Line	embryonic stem cell

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