Variant report

Variant	rs2830580
Chromosome Location	chr21:28291149-28291150
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADAMTS1-2	chr21:28290242-28292870	NONHSAT081552

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs151058	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs151064	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs229048	0.88[ASN][1000 genomes]
rs229083	0.81[ASN][1000 genomes]
rs233598	0.85[ASN][1000 genomes]
rs233599	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs233894	0.86[EUR][1000 genomes]
rs2830581	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2830585	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2830586	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066573	chr21:28096356-28374354	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1057400	chr21:28104936-28359948	Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv834068	chr21:28179670-28360808	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	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
5	nsv1063371	chr21:28282660-28294991	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	lncRNA	n/a	inside rSNPs	diseases
6	nsv1065825	chr21:28282660-28296389	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases
7	nsv1067026	chr21:28282660-28298049	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases
8	nsv1066904	chr21:28282834-28296389	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28282400-28295000	Weak transcription	Fetal Kidney	kidney
2	chr21:28288600-28291200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr21:28288600-28292400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr21:28288800-28291400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr21:28289000-28293000	Enhancers	Hela-S3	cervix
6	chr21:28289600-28292400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr21:28289600-28295200	Weak transcription	Adipose Nuclei	Adipose
8	chr21:28289600-28296000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr21:28289600-28296000	Weak transcription	Ovary	ovary
10	chr21:28289600-28298000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr21:28289800-28295600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr21:28290600-28291200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr21:28290600-28291600	Genic enhancers	HSMM	muscle
14	chr21:28290800-28291400	Enhancers	NHLF	lung
15	chr21:28290800-28291400	Enhancers	Osteobl	bone
16	chr21:28290800-28291600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr21:28290800-28293200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr21:28290800-28293200	Enhancers	NHDF-Ad	bronchial
19	chr21:28290800-28296200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr21:28290800-28297200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr21:28291000-28291800	Genic enhancers	HSMMtube	muscle
22	chr21:28291000-28292600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr21:28291000-28293800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr21:28291000-28297600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr21:28291000-28297800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr21:28291000-28311800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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