Variant report

Variant	rs227050
Chromosome Location	chr11:108228142-108228143
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs113995	0.81[ASN][1000 genomes]
rs179109	0.81[ASN][1000 genomes]
rs184472	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs186595	0.80[ASN][1000 genomes]
rs227040	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs227041	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs227053	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs227061	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs227062	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs227063	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs227068	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs227072	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs227073	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs227074	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs227076	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs227077	0.81[ASN][1000 genomes]
rs227085	0.81[AMR][1000 genomes]
rs227086	0.83[ASN][1000 genomes]
rs227087	0.83[ASN][1000 genomes]
rs227088	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs227091	0.85[ASN][1000 genomes]
rs227092	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs227093	0.81[AMR][1000 genomes]
rs227094	0.83[ASN][1000 genomes]
rs35352778	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs365288	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs396552	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs419716	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs425061	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4585	0.83[ASN][1000 genomes]
rs573890	0.80[ASN][1000 genomes]
rs60683001	0.81[ASN][1000 genomes]
rs609429	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs652311	0.83[ASN][1000 genomes]
rs662578	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs664982	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[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	nsv898383	chr11:108068954-108251211	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv898384	chr11:108097333-108251211	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active 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	28 gene(s)	inside rSNPs	diseases
4	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv832262	chr11:108123831-108309350	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv832263	chr11:108183372-108384391	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs227050	ACAT1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108094800-108244400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:108145800-108235400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:108207400-108234000	Weak transcription	NHLF	lung
4	chr11:108212000-108236000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:108212000-108236600	Weak transcription	Stomach Mucosa	stomach
6	chr11:108212200-108241400	Weak transcription	Hela-S3	cervix
7	chr11:108212800-108238000	Weak transcription	HMEC	breast
8	chr11:108218000-108228400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr11:108219200-108228200	Strong transcription	Fetal Muscle Leg	muscle
10	chr11:108219600-108228400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr11:108220200-108237000	Weak transcription	A549	lung
12	chr11:108222800-108235600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr11:108222800-108242200	Weak transcription	Fetal Intestine Small	intestine
14	chr11:108223800-108229200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:108224200-108239200	Weak transcription	Small Intestine	intestine
16	chr11:108225400-108243200	Weak transcription	Fetal Heart	heart
17	chr11:108225600-108228200	Weak transcription	Right Atrium	heart
18	chr11:108226000-108240200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr11:108226400-108229200	Weak transcription	HUVEC	blood vessel
20	chr11:108226400-108234000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr11:108226400-108235400	Weak transcription	HepG2	liver
22	chr11:108226400-108235600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr11:108226400-108235600	Weak transcription	Spleen	Spleen
24	chr11:108226400-108235800	Weak transcription	HSMM	muscle
25	chr11:108226400-108236200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr11:108226400-108241400	Weak transcription	Thymus	Thymus
27	chr11:108226400-108244200	Weak transcription	Psoas Muscle	Psoas
28	chr11:108226400-108244600	Weak transcription	Gastric	stomach
29	chr11:108226600-108235400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr11:108226600-108235600	Weak transcription	HSMMtube	muscle
31	chr11:108226600-108242000	Weak transcription	Lung	lung
32	chr11:108226600-108257400	Weak transcription	Right Ventricle	heart
33	chr11:108226800-108229200	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr11:108226800-108233800	Weak transcription	NHDF-Ad	bronchial
35	chr11:108226800-108234200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:108226800-108235400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr11:108226800-108235600	Weak transcription	Brain Hippocampus Middle	brain
38	chr11:108226800-108235600	Weak transcription	Fetal Lung	lung
39	chr11:108226800-108236800	Weak transcription	Colonic Mucosa	Colon
40	chr11:108226800-108237200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:108226800-108239000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:108226800-108239000	Weak transcription	Esophagus	oesophagus
43	chr11:108226800-108241400	Weak transcription	Aorta	Aorta
44	chr11:108226800-108241400	Weak transcription	NHEK	skin
45	chr11:108226800-108242800	Weak transcription	Placenta	Placenta
46	chr11:108226800-108243400	Weak transcription	Fetal Brain Male	brain
47	chr11:108227000-108234000	Weak transcription	Osteobl	bone
48	chr11:108227000-108235400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr11:108227000-108235600	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr11:108227000-108235800	Weak transcription	Brain Anterior Caudate	brain

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