Variant report

Variant	rs3741053
Chromosome Location	chr11:107979926-107979927
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11212474	0.80[EUR][1000 genomes]
rs11600706	0.85[AMR][1000 genomes]
rs11600740	0.85[AMR][1000 genomes]
rs11602683	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11603079	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11605419	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11605878	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11606820	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11607758	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11822270	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11822609	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11822651	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11825746	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11825936	0.80[EUR][1000 genomes]
rs11828176	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17107675	0.81[EUR][1000 genomes]
rs17617000	0.82[EUR][1000 genomes]
rs35188041	0.85[ASN][1000 genomes]
rs3741054	0.85[ASN][1000 genomes]
rs3781870	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4565865	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55854804	0.85[ASN][1000 genomes]
rs58243661	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6588998	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7103534	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7107097	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7118335	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7125285	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73555359	0.85[AMR][1000 genomes]
rs73555372	0.85[AMR][1000 genomes]
rs73555391	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73557106	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73557111	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73557122	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73557155	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73557188	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7927717	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7929383	0.85[AMR][1000 genomes]
rs7936826	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7943669	0.80[EUR][1000 genomes]
rs7947408	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[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
rs3741053	ACAT1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107908400-107980600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:107928200-107985200	Weak transcription	Psoas Muscle	Psoas
3	chr11:107946600-107986000	Weak transcription	Brain Angular Gyrus	brain
4	chr11:107953200-107991600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr11:107953600-107986000	Weak transcription	Pancreas	Pancrea
6	chr11:107955800-107991800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr11:107958800-107980400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:107966200-107982200	Weak transcription	Spleen	Spleen
9	chr11:107966200-107986000	Weak transcription	Brain Substantia Nigra	brain
10	chr11:107966400-107992000	Weak transcription	Fetal Brain Male	brain
11	chr11:107966600-107986000	Weak transcription	HMEC	breast
12	chr11:107967000-107991400	Weak transcription	A549	lung
13	chr11:107968200-107986000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr11:107968200-107986800	Weak transcription	Colonic Mucosa	Colon
15	chr11:107968200-107992000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr11:107968600-107986000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr11:107969000-107991600	Weak transcription	Hela-S3	cervix
18	chr11:107969200-107986000	Weak transcription	NHLF	lung
19	chr11:107969200-107986200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr11:107969200-107991800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr11:107970600-107991600	Weak transcription	HepG2	liver
22	chr11:107972200-107986000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr11:107972400-107985000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr11:107972400-107986400	Weak transcription	NHEK	skin
25	chr11:107972400-107991400	Weak transcription	Primary B cells from peripheral blood	blood
26	chr11:107972400-107991600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr11:107972400-107992000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr11:107972600-107980000	Weak transcription	HSMMtube	muscle
29	chr11:107972600-107985400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:107972600-107992200	Weak transcription	Gastric	stomach
31	chr11:107973200-107986400	Weak transcription	Ovary	ovary
32	chr11:107973400-107991800	Weak transcription	Primary T cells from cord blood	blood
33	chr11:107973600-107985600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr11:107973600-107985600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr11:107973600-107986000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:107973600-107986000	Weak transcription	NH-A	brain
37	chr11:107973600-107991600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr11:107973600-107991800	Weak transcription	Primary B cells from cord blood	blood
39	chr11:107973600-107991800	Weak transcription	Brain Germinal Matrix	brain
40	chr11:107973600-107991800	Weak transcription	Fetal Brain Female	brain
41	chr11:107973800-107981200	Weak transcription	Fetal Muscle Leg	muscle
42	chr11:107973800-107985400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:107973800-107986000	Weak transcription	Aorta	Aorta
44	chr11:107973800-107986000	Weak transcription	Brain Anterior Caudate	brain
45	chr11:107973800-107986000	Weak transcription	Small Intestine	intestine
46	chr11:107973800-107986200	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr11:107973800-107986400	Weak transcription	Adipose Nuclei	Adipose
48	chr11:107973800-107986600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr11:107973800-107991600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr11:107973800-107991800	Weak transcription	Lung	lung

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