Variant report

Variant	rs7114201
Chromosome Location	chr11:120050113-120050114
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:120043099..120045650-chr11:120048774..120051644,2	K562	blood:
2	chr11:120047526..120050169-chr11:120053721..120056397,2	K562	blood:
3	chr11:120045369..120049048-chr11:120049155..120051073,3	K562	blood:
4	chr11:120049376..120051724-chr11:120052135..120053974,2	K562	blood:

Variant related genes	Relation type
ENSG00000137699	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12420591	0.88[EUR][1000 genomes]
rs17311212	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2084897	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2084898	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2084899	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2511023	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55920307	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56339619	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56391092	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs569044	0.81[EUR][1000 genomes]
rs60336713	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66553012	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7116650	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7119954	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73004754	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73004764	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73004786	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73004793	0.89[AMR][1000 genomes];0.91[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
rs7114201	OAF	cis	Thyroid	GTEx
rs7114201	OAF	cis	Heart Left Ventricle	GTEx

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120043600-120051000	Weak transcription	HepG2	liver
2	chr11:120043600-120057000	Weak transcription	Esophagus	oesophagus
3	chr11:120043800-120050400	Weak transcription	Liver	Liver
4	chr11:120044400-120055200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr11:120044600-120051400	Weak transcription	Fetal Kidney	kidney
6	chr11:120044600-120051800	Weak transcription	Pancreas	Pancrea
7	chr11:120045000-120051200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr11:120046200-120053000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr11:120046400-120051000	Weak transcription	Fetal Intestine Large	intestine
10	chr11:120046400-120051600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr11:120046800-120055800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr11:120048200-120055600	Enhancers	Fetal Stomach	stomach
13	chr11:120048400-120051000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:120048400-120051600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr11:120048600-120051200	Weak transcription	Brain Hippocampus Middle	brain
16	chr11:120048600-120051600	Weak transcription	Brain Substantia Nigra	brain
17	chr11:120049000-120050200	Weak transcription	Brain Angular Gyrus	brain
18	chr11:120049000-120050200	Enhancers	Placenta Amnion	Placenta Amnion
19	chr11:120049000-120051600	Enhancers	Fetal Lung	lung
20	chr11:120049000-120052000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr11:120049000-120052200	Enhancers	Fetal Muscle Leg	muscle
22	chr11:120049000-120055200	Enhancers	Fetal Muscle Trunk	muscle
23	chr11:120049200-120050200	Enhancers	Adipose Nuclei	Adipose
24	chr11:120049200-120050600	Enhancers	Stomach Smooth Muscle	stomach
25	chr11:120049200-120054400	Genic enhancers	Fetal Intestine Small	intestine
26	chr11:120049400-120050200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr11:120049400-120051200	Weak transcription	HUVEC	blood vessel
28	chr11:120049400-120051400	Enhancers	Osteobl	bone
29	chr11:120049400-120051800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr11:120049400-120054800	Enhancers	Brain Anterior Caudate	brain
31	chr11:120049400-120059800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr11:120049600-120050200	Enhancers	Right Atrium	heart
33	chr11:120049600-120051200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:120049600-120053000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:120049600-120053800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr11:120049600-120057000	Weak transcription	Left Ventricle	heart
37	chr11:120049800-120050200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr11:120049800-120050600	Enhancers	Brain Cingulate Gyrus	brain
39	chr11:120049800-120051000	Weak transcription	Small Intestine	intestine
40	chr11:120049800-120051200	Weak transcription	NH-A	brain
41	chr11:120049800-120051400	Weak transcription	NHDF-Ad	bronchial
42	chr11:120049800-120051400	Weak transcription	NHLF	lung
43	chr11:120049800-120052800	Weak transcription	Colon Smooth Muscle	Colon
44	chr11:120049800-120053200	Weak transcription	Stomach Mucosa	stomach
45	chr11:120049800-120054200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:120049800-120054200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr11:120050000-120050200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr11:120050000-120050200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr11:120050000-120050400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
50	chr11:120050000-120051200	Weak transcription	Colonic Mucosa	Colon

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