Variant report

Variant	rs12482715
Chromosome Location	chr21:28942588-28942589
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: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12482663	0.85[AMR][1000 genomes]
rs12483103	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16980789	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16980849	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2187232	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2226785	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs242343	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2831000	0.83[EUR][1000 genomes]
rs2831013	1.00[ASN][1000 genomes]
rs2849671	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs364128	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs366156	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs376727	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs377920	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs393474	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs415034	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs422279	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs428680	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs437275	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs442437	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs847527	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs847530	1.00[AMR][1000 genomes];1.00[EUR][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	chr21:28941400-28942600	Flanking Active TSS	HSMM	muscle
5	chr21:28941600-28942800	Flanking Active TSS	HSMMtube	muscle
6	chr21:28941600-28943200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr21:28941800-28942600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
8	chr21:28941800-28942600	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr21:28941800-28942800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr21:28941800-28942800	Enhancers	Ovary	ovary
11	chr21:28941800-28943000	Flanking Active TSS	HMEC	breast
12	chr21:28941800-28943000	Flanking Active TSS	NHDF-Ad	bronchial
13	chr21:28941800-28943000	Flanking Active TSS	Osteobl	bone
14	chr21:28941800-28943200	Enhancers	Aorta	Aorta
15	chr21:28941800-28944000	Enhancers	Fetal Muscle Leg	muscle
16	chr21:28941800-28946200	Enhancers	NH-A	brain
17	chr21:28942000-28943000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr21:28942000-28943200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr21:28942000-28943200	Flanking Active TSS	NHEK	skin
20	chr21:28942000-28944000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr21:28942200-28942600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr21:28942200-28942600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr21:28942200-28942600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr21:28942200-28942600	Enhancers	Psoas Muscle	Psoas
25	chr21:28942200-28942800	Enhancers	Fetal Muscle Trunk	muscle
26	chr21:28942200-28942800	Enhancers	Left Ventricle	heart
27	chr21:28942200-28943000	Enhancers	Right Atrium	heart
28	chr21:28942200-28943200	Enhancers	Adipose Nuclei	Adipose
29	chr21:28942200-28943200	Enhancers	Fetal Stomach	stomach
30	chr21:28942200-28943600	Enhancers	Colon Smooth Muscle	Colon
31	chr21:28942200-28943600	Enhancers	Fetal Lung	lung
32	chr21:28942200-28943800	Enhancers	Placenta	Placenta
33	chr21:28942400-28942600	Flanking Active TSS	NHLF	lung
34	chr21:28942400-28942800	Enhancers	Lung	lung
35	chr21:28942400-28942800	Enhancers	Right Ventricle	heart
36	chr21:28942400-28942800	Enhancers	HUVEC	blood vessel
37	chr21:28942400-28943000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr21:28942400-28943000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr21:28942400-28943000	Enhancers	Fetal Kidney	kidney
40	chr21:28942400-28943000	Enhancers	Gastric	stomach
41	chr21:28942400-28943000	Enhancers	Placenta Amnion	Placenta Amnion
42	chr21:28942400-28943000	Enhancers	Stomach Smooth Muscle	stomach
43	chr21:28942400-28944400	Enhancers	Skeletal Muscle Male	skeletal muscle

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