Variant report

Variant	rs73587687
Chromosome Location	chr8:54815003-54815004
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:54813329..54816016-chr8:54818127..54820294,2	K562	blood:
2	chr8:54805478..54808027-chr8:54814864..54817596,2	K562	blood:
3	chr8:54806250..54809119-chr8:54814470..54816413,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs55665326	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56078867	1.00[EUR][1000 genomes]
rs56304962	1.00[EUR][1000 genomes]
rs57145872	1.00[EUR][1000 genomes]
rs59612810	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60106847	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60699716	1.00[EUR][1000 genomes]
rs61057223	1.00[EUR][1000 genomes]
rs61524906	1.00[EUR][1000 genomes]
rs61654796	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7012717	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73587690	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589210	1.00[EUR][1000 genomes]
rs73589216	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589217	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589219	1.00[EUR][1000 genomes]
rs73589222	1.00[EUR][1000 genomes]
rs73589226	1.00[EUR][1000 genomes]
rs73589241	1.00[EUR][1000 genomes]
rs73589246	1.00[EUR][1000 genomes]
rs73589254	1.00[EUR][1000 genomes]
rs73680352	1.00[EUR][1000 genomes]
rs73680367	1.00[EUR][1000 genomes]
rs73680378	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73680380	1.00[EUR][1000 genomes]
rs7830107	0.82[AMR][1000 genomes]
rs7842748	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7842926	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7843756	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7844270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7846507	0.85[AFR][1000 genomes];0.82[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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54803400-54817200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:54804000-54816000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:54807000-54816200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:54807800-54815800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:54808000-54816000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr8:54809600-54818200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:54809800-54815200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:54810600-54816000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:54810600-54816400	Weak transcription	Brain Anterior Caudate	brain
10	chr8:54811200-54815800	Weak transcription	HMEC	breast
11	chr8:54811800-54817200	Weak transcription	Fetal Brain Female	brain
12	chr8:54812600-54816000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:54813000-54815400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:54813400-54815800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr8:54813400-54816000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:54813600-54815800	Weak transcription	NHLF	lung
17	chr8:54814000-54815800	Strong transcription	A549	lung
18	chr8:54814000-54816000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:54814200-54816600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr8:54814400-54816400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:54814600-54815200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:54814600-54815200	Genic enhancers	NHDF-Ad	bronchial
23	chr8:54814600-54816400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:54814800-54815200	Genic enhancers	GM12878-XiMat	blood
25	chr8:54814800-54816000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr8:54815000-54816400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:54815000-54816600	Genic enhancers	NHEK	skin

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