Variant report

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1461820	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1585523	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17699074	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2085939	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2199413	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2219643	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2371424	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34386699	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs34666610	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35908585	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4234342	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4680707	0.93[ASN][1000 genomes]
rs66917661	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6775696	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3328565	chr3:27991169-28915035	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv916364	chr3:28468275-29146280	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1001920	chr3:28711075-28788920	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	nsv876651	chr3:28774258-28823156	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
5	nsv590011	chr3:28780713-29044437	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7624180	DYNC1LI1	cis	cerebellum	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:28784600-28786600	Enhancers	Psoas Muscle	Psoas
2	chr3:28784600-28788400	Enhancers	Fetal Lung	lung
3	chr3:28784800-28786400	Enhancers	Fetal Stomach	stomach
4	chr3:28785000-28786400	Enhancers	Liver	Liver
5	chr3:28785000-28787200	Enhancers	HSMMtube	muscle
6	chr3:28785000-28788000	Enhancers	NHEK	skin
7	chr3:28785200-28787800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr3:28785400-28787600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr3:28785400-28788000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr3:28785400-28788000	Enhancers	Hela-S3	cervix
11	chr3:28785400-28788200	Enhancers	HUVEC	blood vessel
12	chr3:28785600-28787400	Weak transcription	Fetal Brain Male	brain
13	chr3:28785600-28788200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr3:28785800-28787000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:28785800-28788800	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr3:28785800-28789000	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr3:28786000-28788200	Enhancers	Fetal Heart	heart
18	chr3:28786200-28786600	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr3:28786200-28787400	Weak transcription	Fetal Muscle Leg	muscle
20	chr3:28786200-28787800	Weak transcription	Lung	lung
21	chr3:28786200-28788600	Weak transcription	Left Ventricle	heart

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