Variant report

Variant	rs1457924
Chromosome Location	chr21:28942638-28942639
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:28935406..28937759-chr21:28942464..28945414,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADAMTS5-6	chr21:28942518-28942696	NONHSAT081575

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1379664	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1457923	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1457925	0.83[EUR][1000 genomes]
rs1598853	0.81[ASN][1000 genomes]
rs2219408	0.84[EUR][1000 genomes]
rs242342	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs242352	0.91[ASN][1000 genomes]
rs2831004	0.80[EUR][1000 genomes]
rs2831019	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2898112	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs363984	0.82[ASN][1000 genomes]
rs376723	0.81[ASN][1000 genomes]
rs413522	0.82[ASN][1000 genomes]
rs417060	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4519610	0.91[ASN][1000 genomes]
rs453417	0.81[ASN][1000 genomes]
rs57426425	0.83[ASN][1000 genomes]
rs7280261	0.91[ASN][1000 genomes]
rs847531	0.82[ASN][1000 genomes]
rs915822	0.95[ASN][1000 genomes]
rs9305318	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9305320	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9975163	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067475	chr21:28238746-29046707	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv459229	chr21:28543456-29482488	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv587342	chr21:28543456-29482488	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv834071	chr21:28806911-28988880	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv587346	chr21:28921690-28942922	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv587347	chr21:28930833-28951567	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv913669	chr21:28932087-28981553	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28940800-28945000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr21:28941200-28944400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr21:28941200-28945000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr21:28941600-28942800	Flanking Active TSS	HSMMtube	muscle
5	chr21:28941600-28943200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr21:28941800-28942800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr21:28941800-28942800	Enhancers	Ovary	ovary
8	chr21:28941800-28943000	Flanking Active TSS	HMEC	breast
9	chr21:28941800-28943000	Flanking Active TSS	NHDF-Ad	bronchial
10	chr21:28941800-28943000	Flanking Active TSS	Osteobl	bone
11	chr21:28941800-28943200	Enhancers	Aorta	Aorta
12	chr21:28941800-28944000	Enhancers	Fetal Muscle Leg	muscle
13	chr21:28941800-28946200	Enhancers	NH-A	brain
14	chr21:28942000-28943000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr21:28942000-28943200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr21:28942000-28943200	Flanking Active TSS	NHEK	skin
17	chr21:28942000-28944000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr21:28942200-28942800	Enhancers	Fetal Muscle Trunk	muscle
19	chr21:28942200-28942800	Enhancers	Left Ventricle	heart
20	chr21:28942200-28943000	Enhancers	Right Atrium	heart
21	chr21:28942200-28943200	Enhancers	Adipose Nuclei	Adipose
22	chr21:28942200-28943200	Enhancers	Fetal Stomach	stomach
23	chr21:28942200-28943600	Enhancers	Colon Smooth Muscle	Colon
24	chr21:28942200-28943600	Enhancers	Fetal Lung	lung
25	chr21:28942200-28943800	Enhancers	Placenta	Placenta
26	chr21:28942400-28942800	Enhancers	Lung	lung
27	chr21:28942400-28942800	Enhancers	Right Ventricle	heart
28	chr21:28942400-28942800	Enhancers	HUVEC	blood vessel
29	chr21:28942400-28943000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr21:28942400-28943000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr21:28942400-28943000	Enhancers	Fetal Kidney	kidney
32	chr21:28942400-28943000	Enhancers	Gastric	stomach
33	chr21:28942400-28943000	Enhancers	Placenta Amnion	Placenta Amnion
34	chr21:28942400-28943000	Enhancers	Stomach Smooth Muscle	stomach
35	chr21:28942400-28944400	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr21:28942600-28942800	Enhancers	Muscle Satellite Cultured Cells	--
37	chr21:28942600-28942800	Enhancers	NHLF	lung
38	chr21:28942600-28943000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr21:28942600-28943800	Enhancers	Fetal Heart	heart
40	chr21:28942600-28945000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr21:28942600-28945000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr21:28942600-28945200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr21:28942600-28945200	Enhancers	HSMM	muscle

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