Variant report

Variant	rs11081348
Chromosome Location	chr18:7962084-7962085
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11661715	0.82[CHB][hapmap]
rs12456376	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.97[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12958595	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1443618	0.81[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.89[EUR][1000 genomes]
rs1561999	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2044220	0.82[CHB][hapmap]
rs8088882	0.82[CHB][hapmap]
rs8093406	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9304007	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1062911	chr18:7561991-8088274	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv543637	chr18:7561991-8088274	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1064345	chr18:7562051-8088274	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv543638	chr18:7562051-8088274	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11081348	BOK	trans	cerebellum	SCAN

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7941800-7966400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr18:7947200-7981400	Weak transcription	Fetal Stomach	stomach
3	chr18:7947400-7963400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr18:7947400-7963600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr18:7947400-7965600	Weak transcription	Thymus	Thymus
6	chr18:7947800-7967600	Weak transcription	Primary T cells from cord blood	blood
7	chr18:7948000-7965800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr18:7948000-7967200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr18:7948000-7975000	Weak transcription	Pancreas	Pancrea
10	chr18:7951200-7963400	Weak transcription	Adipose Nuclei	Adipose
11	chr18:7951600-7965800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr18:7954400-7966000	Weak transcription	Fetal Kidney	kidney
13	chr18:7955400-7965200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr18:7955600-7962400	Weak transcription	Psoas Muscle	Psoas
15	chr18:7955600-7963400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr18:7956000-7965000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr18:7956000-7966200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr18:7956000-7980800	Weak transcription	Fetal Thymus	thymus
19	chr18:7956000-7982400	Weak transcription	Fetal Muscle Leg	muscle
20	chr18:7956200-7962400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr18:7957600-7965200	Weak transcription	Lung	lung
22	chr18:7957600-7980600	Weak transcription	Right Ventricle	heart
23	chr18:7958600-7963200	Weak transcription	Brain Anterior Caudate	brain
24	chr18:7958800-7963400	Weak transcription	Aorta	Aorta
25	chr18:7959000-7963200	Weak transcription	Right Atrium	heart
26	chr18:7959000-7963600	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr18:7959000-7963800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr18:7959000-7964200	Weak transcription	NHDF-Ad	bronchial
29	chr18:7959000-7987400	Weak transcription	Ovary	ovary
30	chr18:7959200-7963800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr18:7959200-7963800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr18:7959200-7982400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr18:7959400-7962600	Weak transcription	Left Ventricle	heart
34	chr18:7959600-7963600	Weak transcription	Osteobl	bone
35	chr18:7959600-7963800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr18:7959600-7963800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr18:7959800-7963200	Weak transcription	Small Intestine	intestine
38	chr18:7959800-7965400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr18:7959800-7967800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr18:7960000-7964200	Weak transcription	Hela-S3	cervix
41	chr18:7960800-7967000	Weak transcription	Fetal Lung	lung
42	chr18:7961200-7964800	Enhancers	A549	lung
43	chr18:7961600-7963800	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr18:7962000-7962600	Enhancers	Skeletal Muscle Female	skeletal muscle

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