Variant report

Variant	rs9950557
Chromosome Location	chr18:45544093-45544094
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:45543619..45545550-chr18:45546902..45548694,2	K562	blood:
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	0.86[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28594148	0.86[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28637555	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4401107	1.00[ASN][1000 genomes]
rs4623931	1.00[ASN][1000 genomes]
rs58746990	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60118920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7227917	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7228052	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7242462	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[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	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9957725	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[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:25 , 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	chr18:45539200-45544200	Weak transcription	Fetal Thymus	thymus
3	chr18:45539800-45547400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr18:45539800-45547800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr18:45540000-45548800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr18:45540200-45546400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr18:45540400-45547600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr18:45542200-45544800	Weak transcription	NHEK	skin
9	chr18:45542600-45544800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr18:45542600-45544800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr18:45543000-45546000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr18:45543200-45544200	Flanking Active TSS	Hela-S3	cervix
13	chr18:45543200-45545000	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr18:45543600-45544400	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr18:45543600-45545000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr18:45543600-45545000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr18:45543600-45545000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr18:45543800-45544400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr18:45543800-45544400	Enhancers	Liver	Liver
20	chr18:45543800-45545000	Enhancers	Adipose Nuclei	Adipose
21	chr18:45544000-45544200	Enhancers	Fetal Lung	lung
22	chr18:45544000-45544200	Enhancers	Lung	lung
23	chr18:45544000-45544200	Bivalent Enhancer	Osteobl	bone
24	chr18:45544000-45544400	Enhancers	A549	lung
25	chr18:45544000-45545200	Enhancers	Placenta	Placenta

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