Variant report

Variant	rs66706717
Chromosome Location	chr5:5382599-5382600
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	chr5:5382190..5385006-chr5:5385608..5387202,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11134112	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11134113	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11134114	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11743860	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11745458	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11745463	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11748854	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11750848	0.91[EUR][1000 genomes]
rs12332322	1.00[ASN][1000 genomes]
rs13172631	0.90[EUR][1000 genomes]
rs16875467	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16875480	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16875486	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16875493	0.90[EUR][1000 genomes]
rs16875502	0.91[EUR][1000 genomes]
rs3935571	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs41418444	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55758531	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55930845	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55986458	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56024322	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57657417	0.87[EUR][1000 genomes]
rs60591667	0.80[EUR][1000 genomes]
rs66478976	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs66550117	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67531547	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67745304	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs67790736	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67969635	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72726078	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72726093	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72726095	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024784	chr5:4980979-5391231	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh 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	nsv1032719	chr5:5102763-5387406	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537621	chr5:5102763-5387406	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr5:5370600-5383000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr5:5376200-5383600	Weak transcription	Spleen	Spleen
3	chr5:5378600-5382800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:5379000-5384400	Weak transcription	Adipose Nuclei	Adipose
5	chr5:5380400-5382600	Enhancers	Fetal Brain Female	brain
6	chr5:5380400-5382600	Enhancers	Fetal Muscle Leg	muscle
7	chr5:5381000-5382600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr5:5381000-5383600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr5:5381000-5384400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr5:5381000-5394400	Weak transcription	Brain Hippocampus Middle	brain
11	chr5:5381800-5382600	Enhancers	Pancreas	Pancrea
12	chr5:5382400-5382600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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