Variant report

Variant	rs73004786
Chromosome Location	chr11:120058833-120058834
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12420591	0.90[EUR][1000 genomes]
rs17311212	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2084897	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2084898	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2084899	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55920307	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56339619	0.81[EUR][1000 genomes]
rs56391092	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60336713	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66553012	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7114201	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7116650	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7119954	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73004754	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73004764	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73004793	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][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	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv518464	chr11:120040442-120109967	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs73004786	OAF	cis	Thyroid	GTEx
rs73004786	OAF	cis	Heart Left Ventricle	GTEx

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120049400-120059800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr11:120055400-120059400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:120055600-120059000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:120055800-120059000	Enhancers	Small Intestine	intestine
5	chr11:120055800-120059400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:120056000-120060200	Enhancers	Ovary	ovary
7	chr11:120056000-120064600	Enhancers	Fetal Stomach	stomach
8	chr11:120056200-120059200	Enhancers	Fetal Intestine Large	intestine
9	chr11:120056200-120060800	Enhancers	Pancreas	Pancrea
10	chr11:120056400-120059000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
11	chr11:120056400-120060200	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr11:120056800-120059600	Enhancers	Duodenum Mucosa	Duodenum
13	chr11:120057000-120059400	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr11:120057600-120059200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:120057600-120059200	Active TSS	Rectal Smooth Muscle	rectum
16	chr11:120057800-120063600	Enhancers	HepG2	liver
17	chr11:120058000-120068800	Weak transcription	Right Atrium	heart
18	chr11:120058200-120059000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
19	chr11:120058200-120059000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr11:120058200-120059000	Enhancers	Fetal Brain Female	brain
21	chr11:120058200-120059200	Weak transcription	Right Ventricle	heart
22	chr11:120058200-120061600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:120058200-120063800	Weak transcription	Gastric	stomach
24	chr11:120058200-120068200	Weak transcription	Spleen	Spleen
25	chr11:120058400-120059000	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr11:120058400-120059200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:120058400-120060000	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr11:120058400-120061200	Enhancers	Stomach Mucosa	stomach
29	chr11:120058400-120061400	Enhancers	Colonic Mucosa	Colon
30	chr11:120058400-120061800	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr11:120058400-120062000	Weak transcription	Fetal Brain Male	brain
32	chr11:120058400-120066400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:120058400-120066600	Weak transcription	Brain Hippocampus Middle	brain
34	chr11:120058400-120066800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr11:120058600-120059000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
36	chr11:120058600-120059000	Weak transcription	Esophagus	oesophagus
37	chr11:120058600-120059000	Enhancers	Fetal Intestine Small	intestine
38	chr11:120058600-120059200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
39	chr11:120058600-120059400	Enhancers	Colon Smooth Muscle	Colon
40	chr11:120058600-120060000	Enhancers	Fetal Muscle Trunk	muscle
41	chr11:120058600-120060200	Enhancers	Fetal Kidney	kidney
42	chr11:120058600-120061600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr11:120058600-120061800	Weak transcription	Brain Cingulate Gyrus	brain
44	chr11:120058600-120063800	Enhancers	Liver	Liver
45	chr11:120058800-120059400	Enhancers	Fetal Lung	lung
46	chr11:120058800-120061800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr11:120058800-120062400	Enhancers	Fetal Muscle Leg	muscle
48	chr11:120058800-120063800	Weak transcription	Fetal Heart	heart

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