Variant report

Variant	rs6097591
Chromosome Location	chr20:52431502-52431503
allele	C/T
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
ENSG00000226266	Chromatin interaction
ENSG00000136536	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16998468	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2079278	0.89[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34193630	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34219895	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35479532	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6022784	1.00[ASW][hapmap];0.90[CEU][hapmap];0.82[CHB][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.93[TSI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[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:24 , 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	chr20:52430000-52431600	Enhancers	A549	lung
8	chr20:52430000-52432000	Enhancers	Fetal Lung	lung
9	chr20:52430400-52432400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr20:52430400-52432400	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr20:52430400-52432400	Enhancers	NHDF-Ad	bronchial
12	chr20:52430400-52432800	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr20:52430600-52431600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr20:52430600-52431800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr20:52430600-52432400	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr20:52430600-52434200	Weak transcription	Fetal Stomach	stomach
17	chr20:52430800-52431600	Enhancers	Primary T cells fromperipheralblood	blood
18	chr20:52431000-52432000	Enhancers	Fetal Thymus	thymus
19	chr20:52431200-52431800	Flanking Active TSS	GM12878-XiMat	blood
20	chr20:52431200-52432000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr20:52431200-52432800	Enhancers	Primary T cells from cord blood	blood
22	chr20:52431400-52431800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr20:52431400-52431800	Enhancers	HepG2	liver
24	chr20:52431400-52432200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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