Variant report

Variant	rs72824123
Chromosome Location	chr5:145570798-145570799
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	chr5:145560445..145562806-chr5:145569318..145570972,2	K562	blood:
2	chr5:145570785..145572816-chr5:145582211..145584363,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133706	Chromatin interaction
ENSG00000091009	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10515568	0.93[EUR][1000 genomes]
rs11540216	0.83[EUR][1000 genomes]
rs11952903	0.93[EUR][1000 genomes]
rs11959720	0.93[EUR][1000 genomes]
rs17104247	0.83[EUR][1000 genomes]
rs17104250	0.83[EUR][1000 genomes]
rs17104260	0.83[EUR][1000 genomes]
rs17104264	0.83[EUR][1000 genomes]
rs17104266	0.83[EUR][1000 genomes]
rs17104268	0.83[EUR][1000 genomes]
rs17104276	0.83[EUR][1000 genomes]
rs17104293	0.90[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs17104318	0.96[EUR][1000 genomes]
rs17104321	0.96[EUR][1000 genomes]
rs17104322	0.96[EUR][1000 genomes]
rs17104324	0.96[EUR][1000 genomes]
rs17104331	0.96[EUR][1000 genomes]
rs17104347	0.93[EUR][1000 genomes]
rs17104362	0.93[EUR][1000 genomes]
rs17104371	0.93[EUR][1000 genomes]
rs17104395	0.90[EUR][1000 genomes]
rs2163754	0.96[EUR][1000 genomes]
rs2895652	0.96[EUR][1000 genomes]
rs4631229	0.93[EUR][1000 genomes]
rs56864252	0.83[EUR][1000 genomes]
rs57466173	0.93[EUR][1000 genomes]
rs57722184	1.00[EUR][1000 genomes]
rs58569901	0.83[EUR][1000 genomes]
rs58922378	0.93[EUR][1000 genomes]
rs60892265	0.95[EUR][1000 genomes]
rs61455974	0.83[EUR][1000 genomes]
rs66507348	0.83[EUR][1000 genomes]
rs66891285	0.83[EUR][1000 genomes]
rs67350755	0.83[EUR][1000 genomes]
rs67721586	0.83[EUR][1000 genomes]
rs67859456	0.96[EUR][1000 genomes]
rs67897591	0.83[EUR][1000 genomes]
rs68040240	0.91[EUR][1000 genomes]
rs6870249	0.93[EUR][1000 genomes]
rs6871866	0.83[EUR][1000 genomes]
rs6882243	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72806113	0.93[EUR][1000 genomes]
rs72806116	0.93[EUR][1000 genomes]
rs72806136	0.93[EUR][1000 genomes]
rs72806144	0.93[EUR][1000 genomes]
rs72806155	0.93[EUR][1000 genomes]
rs72806173	0.91[EUR][1000 genomes]
rs72806176	0.90[EUR][1000 genomes]
rs72820451	0.83[EUR][1000 genomes]
rs72822208	0.83[EUR][1000 genomes]
rs72822249	0.83[EUR][1000 genomes]
rs72822252	0.83[EUR][1000 genomes]
rs72822263	0.83[EUR][1000 genomes]
rs72822274	0.80[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs72822293	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72822296	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72824110	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72824124	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73315720	0.83[EUR][1000 genomes]
rs73317887	1.00[EUR][1000 genomes]
rs73317890	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv883006	chr5:145450586-145672431	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv428128	chr5:145503978-145682880	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv883007	chr5:145506100-145672431	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv883008	chr5:145509728-145642925	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3348501	chr5:145543808-145572250	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv883009	chr5:145567877-145672431	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145563000-145582200	Weak transcription	Right Atrium	heart
2	chr5:145567600-145570800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:145567600-145571000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:145569800-145570800	Enhancers	HepG2	liver
5	chr5:145569800-145570800	Enhancers	HMEC	breast
6	chr5:145569800-145571000	Enhancers	NHEK	skin
7	chr5:145570000-145571000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:145570400-145570800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr5:145570400-145570800	Enhancers	Osteobl	bone
10	chr5:145570600-145570800	Enhancers	K562	blood
11	chr5:145570600-145571200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:145570600-145572800	Weak transcription	NH-A	brain

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