Variant report

Variant	rs7012717
Chromosome Location	chr8:54820858-54820859
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10101967	1.00[MEX][hapmap]
rs28452332	1.00[MEX][hapmap]
rs55665326	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56078867	1.00[EUR][1000 genomes]
rs56304962	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57145872	1.00[EUR][1000 genomes]
rs59612810	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60106847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60699716	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61057223	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61524906	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61654796	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73587687	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73587690	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589210	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589216	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589219	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589222	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589226	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589241	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589246	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589254	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73680352	1.00[EUR][1000 genomes]
rs73680367	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73680378	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73680380	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7830107	0.82[AMR][1000 genomes]
rs7842748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7842926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7843756	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7844270	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7846507	1.00[AFR][1000 genomes];1.00[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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54815800-54821000	Enhancers	NHDF-Ad	bronchial
2	chr8:54816000-54821000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr8:54816600-54821200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:54818200-54821000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:54818600-54821800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:54818600-54843600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:54818800-54826400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr8:54819400-54830200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:54819600-54824600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:54819600-54829200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:54819600-54831000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:54819800-54822200	Weak transcription	HMEC	breast
13	chr8:54819800-54825800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:54819800-54825800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:54819800-54830600	Weak transcription	NHLF	lung
16	chr8:54820000-54822400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr8:54820200-54821000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:54820400-54826000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr8:54820600-54821000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:54820600-54822200	Weak transcription	A549	lung
21	chr8:54820600-54827600	Weak transcription	NHEK	skin
22	chr8:54820800-54821000	Enhancers	GM12878-XiMat	blood

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