Variant report

Variant	rs73622247
Chromosome Location	chr20:52431818-52431819
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:57920235..57924333-chr20:52429102..52433738,4	MCF-7	breast:
2	chr20:52429323..52432277-chr9:134928872..134931515,2	MCF-7	breast:
3	chr20:45989026..45990634-chr20:52430847..52433559,2	MCF-7	breast:
4	chr2:160568775..160570535-chr20:52431319..52433278,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136536	Chromatin interaction
ENSG00000226266	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55723329	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56246963	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56320614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6022776	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6022777	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6091753	0.92[ASN][1000 genomes]
rs6097606	0.92[ASN][1000 genomes]
rs73622244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73622245	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:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34060	chr20:52251863-52702186	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	296 gene(s)	inside rSNPs	diseases
2	nsv834008	chr20:52368660-52533410	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	185 gene(s)	inside rSNPs	diseases
3	nsv834009	chr20:52386050-52590795	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	182 gene(s)	inside rSNPs	diseases
4	nsv1060372	chr20:52409008-52502100	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	122 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52423600-52432400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr20:52423800-52436200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr20:52426200-52456200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr20:52426400-52436000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr20:52427200-52434600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr20:52429800-52432000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr20:52430000-52432000	Enhancers	Fetal Lung	lung
8	chr20:52430400-52432400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr20:52430400-52432400	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr20:52430400-52432400	Enhancers	NHDF-Ad	bronchial
11	chr20:52430400-52432800	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr20:52430600-52432400	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr20:52430600-52434200	Weak transcription	Fetal Stomach	stomach
14	chr20:52431000-52432000	Enhancers	Fetal Thymus	thymus
15	chr20:52431200-52432000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr20:52431200-52432800	Enhancers	Primary T cells from cord blood	blood
17	chr20:52431400-52432200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr20:52431600-52436200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr20:52431600-52439400	Weak transcription	A549	lung
20	chr20:52431800-52432400	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr20:52431800-52432800	Enhancers	GM12878-XiMat	blood
22	chr20:52431800-52435800	Weak transcription	Thymus	Thymus
23	chr20:52431800-52436000	Weak transcription	HepG2	liver

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