Variant report

Variant	rs66553012
Chromosome Location	chr11:120067624-120067625
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120064484..120070047-chr11:120078272..120084162,6	MCF-7	breast:
2	chr11:120066886..120069148-chr11:120079541..120081080,2	K562	blood:

Variant related genes	Relation type
ENSG00000184232	Chromatin interaction

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

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

rs_ID	r²[population]
rs12420591	0.88[EUR][1000 genomes]
rs17311212	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2084897	0.87[EUR][1000 genomes]
rs2084898	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2084899	0.87[EUR][1000 genomes]
rs55920307	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56339619	0.80[EUR][1000 genomes]
rs56391092	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60336713	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7114201	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7116650	0.87[EUR][1000 genomes]
rs7119954	0.87[EUR][1000 genomes]
rs73004754	0.87[EUR][1000 genomes]
rs73004764	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73004786	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73004793	0.91[AMR][1000 genomes];0.91[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	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
rs66553012	OAF	cis	Heart Left Ventricle	GTEx
rs66553012	OAF	cis	Thyroid	GTEx

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120058000-120068800	Weak transcription	Right Atrium	heart
2	chr11:120058200-120068200	Weak transcription	Spleen	Spleen
3	chr11:120062200-120073600	Enhancers	Fetal Intestine Small	intestine
4	chr11:120064200-120070400	Enhancers	Fetal Muscle Leg	muscle
5	chr11:120064400-120070200	Enhancers	Fetal Muscle Trunk	muscle
6	chr11:120064600-120069200	Weak transcription	Ovary	ovary
7	chr11:120064600-120069400	Weak transcription	Pancreas	Pancrea
8	chr11:120065600-120071800	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr11:120065800-120068200	Enhancers	Colonic Mucosa	Colon
10	chr11:120065800-120068200	Enhancers	Fetal Kidney	kidney
11	chr11:120065800-120068800	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr11:120065800-120069400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:120065800-120070400	Enhancers	Fetal Stomach	stomach
14	chr11:120065800-120074600	Enhancers	Fetal Intestine Large	intestine
15	chr11:120066000-120068600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
16	chr11:120066000-120069200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:120066000-120069800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr11:120066200-120068000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:120066400-120068600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:120066400-120068600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
21	chr11:120066400-120069200	Enhancers	Placenta	Placenta
22	chr11:120066400-120069600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:120066400-120069800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:120066400-120069800	Enhancers	Fetal Lung	lung
25	chr11:120066400-120070200	Enhancers	Brain Cingulate Gyrus	brain
26	chr11:120066400-120070200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr11:120066400-120070800	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr11:120066400-120071000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
29	chr11:120066600-120069800	Enhancers	Brain Hippocampus Middle	brain
30	chr11:120066600-120073200	Enhancers	Duodenum Mucosa	Duodenum
31	chr11:120066800-120068000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
32	chr11:120066800-120069800	Enhancers	Brain Anterior Caudate	brain
33	chr11:120066800-120070400	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr11:120066800-120070800	Enhancers	Liver	Liver
35	chr11:120066800-120071200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
36	chr11:120066800-120071200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
37	chr11:120067000-120069200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:120067200-120068000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr11:120067200-120068200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
40	chr11:120067200-120068400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr11:120067200-120068800	Enhancers	Small Intestine	intestine
42	chr11:120067200-120069800	Enhancers	Brain Angular Gyrus	brain
43	chr11:120067400-120068000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr11:120067400-120068000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
45	chr11:120067400-120068400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
46	chr11:120067400-120068400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
47	chr11:120067400-120068400	Flanking Active TSS	HepG2	liver
48	chr11:120067400-120069000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr11:120067600-120068000	Weak transcription	Adipose Nuclei	Adipose
50	chr11:120067600-120068000	Enhancers	HSMMtube	muscle

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