Variant report

Variant	rs7242462
Chromosome Location	chr18:45545720-45545721
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	chr18:45402056..45405449-chr18:45544846..45548415,3	MCF-7	breast:
2	chr18:45534471..45536793-chr18:45544064..45546732,4	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs13382003	0.84[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28594148	0.84[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28637555	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4328241	1.00[ASN][1000 genomes]
rs4329718	1.00[ASN][1000 genomes]
rs4331136	1.00[ASN][1000 genomes]
rs4341811	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4401107	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4623931	1.00[ASN][1000 genomes]
rs58746990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60118920	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7227917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7228052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72916073	1.00[ASN][1000 genomes]
rs72916076	1.00[ASN][1000 genomes]
rs72916077	1.00[ASN][1000 genomes]
rs72916085	1.00[ASN][1000 genomes]
rs72916088	1.00[ASN][1000 genomes]
rs72916089	1.00[ASN][1000 genomes]
rs72916090	1.00[ASN][1000 genomes]
rs72916093	1.00[ASN][1000 genomes]
rs9950457	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9950557	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9957725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv909616	chr18:45467806-45844500	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1066479	chr18:45505569-45554507	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1055669	chr18:45513090-45559375	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45535200-45549000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr18:45539800-45547400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr18:45539800-45547800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr18:45540000-45548800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr18:45540200-45546400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr18:45540400-45547600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr18:45543000-45546000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr18:45544200-45548800	Enhancers	Hela-S3	cervix
9	chr18:45544800-45545800	Enhancers	NHEK	skin
10	chr18:45544800-45546000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr18:45544800-45546000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr18:45544800-45548600	Enhancers	Fetal Thymus	thymus
13	chr18:45545000-45546000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr18:45545000-45547600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr18:45545000-45547800	Weak transcription	Adipose Nuclei	Adipose
16	chr18:45545000-45547800	Weak transcription	Spleen	Spleen
17	chr18:45545200-45546000	Weak transcription	Placenta	Placenta
18	chr18:45545200-45546800	Enhancers	Thymus	Thymus
19	chr18:45545400-45546000	Weak transcription	Lung	lung
20	chr18:45545400-45547000	Enhancers	A549	lung
21	chr18:45545600-45546000	Weak transcription	Esophagus	oesophagus

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