Variant report

Variant	rs73589210
Chromosome Location	chr8:54819800-54819801
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	chr8:54813329..54816016-chr8:54818127..54820294,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs55665326	1.00[EUR][1000 genomes]
rs56078867	1.00[EUR][1000 genomes]
rs56304962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57145872	1.00[EUR][1000 genomes]
rs59612810	1.00[EUR][1000 genomes]
rs60106847	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60699716	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61057223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61524906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61654796	1.00[EUR][1000 genomes]
rs7012717	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73587687	1.00[EUR][1000 genomes]
rs73587690	1.00[EUR][1000 genomes]
rs73589216	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589217	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589219	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589222	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589254	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73680352	1.00[EUR][1000 genomes]
rs73680367	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73680378	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73680380	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7842748	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7842926	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7843756	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7844270	1.00[EUR][1000 genomes]
rs7846507	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][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	nsv1021775	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv539621	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54815800-54819800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr8:54815800-54819800	Enhancers	NHLF	lung
3	chr8:54815800-54819800	Enhancers	Osteobl	bone
4	chr8:54815800-54820000	Enhancers	Muscle Satellite Cultured Cells	--
5	chr8:54815800-54821000	Enhancers	NHDF-Ad	bronchial
6	chr8:54816000-54819800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr8:54816000-54821000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr8:54816200-54819800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr8:54816600-54821200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:54817000-54819800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:54817400-54820000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:54817600-54820000	Enhancers	HSMM	muscle
13	chr8:54818200-54819800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:54818200-54819800	Enhancers	NH-A	brain
15	chr8:54818200-54821000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:54818400-54820600	Enhancers	NHEK	skin
17	chr8:54818600-54821800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:54818600-54843600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:54818800-54826400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr8:54819000-54819800	Enhancers	Hela-S3	cervix
21	chr8:54819000-54819800	Enhancers	HMEC	breast
22	chr8:54819400-54819800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:54819400-54820400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr8:54819400-54830200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr8:54819600-54819800	Active TSS	GM12878-XiMat	blood
26	chr8:54819600-54820000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:54819600-54820600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:54819600-54820600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr8:54819600-54820600	Enhancers	A549	lung
30	chr8:54819600-54824600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr8:54819600-54829200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:54819600-54831000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:54819800-54820200	Weak transcription	GM12878-XiMat	blood
34	chr8:54819800-54820600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr8:54819800-54822200	Weak transcription	HMEC	breast
36	chr8:54819800-54825800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr8:54819800-54825800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr8:54819800-54830600	Weak transcription	NHLF	lung

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