Variant report

Variant	rs11082478
Chromosome Location	chr18:43383575-43383576
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:43380245..43387616-chr18:43415260..43422410,17	MCF-7	breast:
2	chr18:43381063..43385343-chr18:43415644..43422251,7	MCF-7	breast:
3	chr18:43371872..43375124-chr18:43380960..43384317,6	MCF-7	breast:
4	chr18:43364506..43367357-chr18:43382801..43384329,2	MCF-7	breast:
5	chr18:43381990..43384452-chr18:43407689..43411352,4	MCF-7	breast:
6	chr18:43383142..43384788-chr18:43397858..43399839,2	MCF-7	breast:
7	chr18:43370515..43375672-chr18:43379810..43384915,16	MCF-7	breast:
8	chr18:43381895..43384137-chr18:43408765..43411608,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000197046	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11082477	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11082482	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11082489	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs11082490	0.90[JPT][hapmap]
rs12455458	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12606508	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16978500	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3921068	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8083935	0.82[AMR][1000 genomes]
rs8093452	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9953686	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9955442	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9963719	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525268	chr18:42748365-43474795	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43380800-43383600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr18:43380800-43385000	Enhancers	HMEC	breast
3	chr18:43381400-43383600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr18:43381400-43383800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr18:43381400-43383800	Enhancers	NHDF-Ad	bronchial
6	chr18:43381400-43383800	Enhancers	NHLF	lung
7	chr18:43381600-43383600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr18:43381600-43383600	Enhancers	HSMMtube	muscle
9	chr18:43381600-43383800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr18:43382000-43383600	Enhancers	Aorta	Aorta
11	chr18:43382000-43383800	Enhancers	Stomach Mucosa	stomach
12	chr18:43382200-43386600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr18:43382600-43383600	Flanking Active TSS	Hela-S3	cervix
14	chr18:43382800-43383800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr18:43382800-43384000	Enhancers	NH-A	brain
16	chr18:43383000-43383600	Flanking Active TSS	HUVEC	blood vessel
17	chr18:43383000-43383600	Flanking Active TSS	NHEK	skin
18	chr18:43383200-43383600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr18:43383200-43384000	Enhancers	HSMM	muscle
20	chr18:43383200-43384000	Enhancers	Osteobl	bone
21	chr18:43383200-43384600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr18:43383400-43383600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr18:43383400-43383600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr18:43383400-43383600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr18:43383400-43383600	Flanking Active TSS	A549	lung
26	chr18:43383400-43386400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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