Variant report

Variant	rs4818756
Chromosome Location	chr21:46477130-46477131
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46473847..46475592-chr21:46476375..46478066,2	MCF-7	breast:
2	chr21:46475680..46477372-chr21:46480133..46481911,2	K562	blood:
3	chr21:46432809..46434557-chr21:46475322..46477868,2	MCF-7	breast:
4	chr21:46467500..46469724-chr21:46474890..46477329,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs12482061	0.81[JPT][hapmap]
rs12483576	0.86[CEU][hapmap];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2838756	0.91[CHB][hapmap];0.81[CHD][hapmap];0.82[ASN][1000 genomes]
rs2838759	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs35117020	0.88[ASN][1000 genomes]
rs4818757	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6518210	0.95[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs7278357	0.88[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7282497	0.85[ASN][1000 genomes]
rs73230637	0.80[ASN][1000 genomes]
rs754000	0.88[ASN][1000 genomes]
rs8129133	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs869958	0.86[JPT][hapmap];0.85[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	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv913970	chr21:46305175-46487831	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv913976	chr21:46306161-46487831	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong 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	26 gene(s)	inside rSNPs	diseases
4	nsv834110	chr21:46316183-46505151	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4818756	PLAC4	cis	parietal	SCAN
rs4818756	POFUT2	cis	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46471600-46484200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr21:46471800-46478000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr21:46471800-46480200	Weak transcription	Lung	lung
4	chr21:46474600-46477400	Enhancers	Fetal Brain Male	brain
5	chr21:46475200-46477400	Enhancers	Fetal Muscle Leg	muscle
6	chr21:46475200-46477600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr21:46475200-46478200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr21:46475200-46493400	Weak transcription	Right Atrium	heart
9	chr21:46475400-46493200	Weak transcription	Spleen	Spleen
10	chr21:46475800-46477200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr21:46476400-46477200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr21:46476400-46477200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr21:46476400-46479200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr21:46476600-46477200	Enhancers	Adipose Nuclei	Adipose
15	chr21:46476600-46477200	Enhancers	Osteobl	bone
16	chr21:46476600-46480400	Weak transcription	Fetal Lung	lung
17	chr21:46476800-46477200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr21:46476800-46477200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
19	chr21:46476800-46477400	Enhancers	HUVEC	blood vessel
20	chr21:46477000-46477200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr21:46477000-46477200	Enhancers	Fetal Brain Female	brain
22	chr21:46477000-46477200	Enhancers	Right Ventricle	heart
23	chr21:46477000-46477200	Bivalent Enhancer	NHDF-Ad	bronchial

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