Variant report

Variant	rs1817113
Chromosome Location	chr21:28740306-28740307
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADAMTS5-5	chr21:28739620-28740664	l_2188_chr21:28733501-28920917_placenta

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs1023381	0.84[AMR][1000 genomes]
rs1023382	0.87[AMR][1000 genomes]
rs1023383	0.84[AMR][1000 genomes]
rs1155213	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1155214	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11702075	0.84[AMR][1000 genomes]
rs11702106	0.84[AMR][1000 genomes]
rs11702121	0.84[AMR][1000 genomes]
rs13052258	0.83[AMR][1000 genomes]
rs1349598	0.80[AMR][1000 genomes]
rs1349599	0.80[AMR][1000 genomes]
rs1376927	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1452093	0.80[AMR][1000 genomes]
rs1452094	0.80[AMR][1000 genomes]
rs1452095	0.83[AMR][1000 genomes]
rs1452096	0.87[AMR][1000 genomes]
rs1452097	0.87[AMR][1000 genomes]
rs1452098	0.87[AMR][1000 genomes]
rs1452099	0.84[AMR][1000 genomes]
rs1452101	0.84[AMR][1000 genomes]
rs1557366	0.85[AMR][1000 genomes]
rs1571670	0.83[AMR][1000 genomes]
rs1597786	0.87[AMR][1000 genomes]
rs1597787	0.89[AMR][1000 genomes]
rs1597788	0.87[AMR][1000 genomes]
rs1597789	0.87[AMR][1000 genomes]
rs1817114	0.84[AMR][1000 genomes]
rs1823705	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1869147	0.83[AMR][1000 genomes]
rs1893579	0.87[AMR][1000 genomes]
rs1893580	0.87[AMR][1000 genomes]
rs1893581	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2016760	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2016768	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2123151	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2167597	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2409205	0.87[AMR][1000 genomes]
rs2830871	0.84[AMR][1000 genomes]
rs2830873	0.84[AMR][1000 genomes]
rs2830874	0.81[AMR][1000 genomes]
rs2830876	0.87[AMR][1000 genomes]
rs2830877	0.84[AMR][1000 genomes]
rs2830878	0.84[AMR][1000 genomes]
rs2830879	0.87[AMR][1000 genomes]
rs2830881	0.83[AMR][1000 genomes]
rs2830882	0.84[AMR][1000 genomes]
rs2830883	0.87[AMR][1000 genomes]
rs2830885	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2830886	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2830887	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2830888	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2830891	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28555164	0.84[AMR][1000 genomes]
rs28692542	0.87[AMR][1000 genomes]
rs2898109	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2898111	0.87[AMR][1000 genomes]
rs34495779	0.83[AMR][1000 genomes]
rs4589839	0.87[AMR][1000 genomes]
rs4589840	0.87[AMR][1000 genomes]
rs62222042	0.84[AMR][1000 genomes]
rs6516763	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs751950	0.87[AMR][1000 genomes]
rs751951	0.87[AMR][1000 genomes]
rs754017	0.83[AMR][1000 genomes]
rs8134899	0.87[AMR][1000 genomes]
rs995532	0.87[AMR][1000 genomes]
rs995533	0.87[AMR][1000 genomes]
rs9976078	0.83[AMR][1000 genomes]
rs9976291	0.87[AMR][1000 genomes]
rs9977499	0.84[AMR][1000 genomes]
rs9978629	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9978787	0.83[AMR][1000 genomes]
rs9979152	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9980089	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv913666	chr21:28687650-28810976	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1061112	chr21:28738028-28775601	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv965979	chr21:28739398-28743541	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28738000-28742600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr21:28738000-28743400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr21:28738400-28742600	Weak transcription	HSMMtube	muscle
4	chr21:28738600-28741600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr21:28739200-28741600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr21:28739600-28741200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr21:28739600-28743400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr21:28740000-28741600	Weak transcription	Ovary	ovary
9	chr21:28740200-28742600	Weak transcription	Fetal Intestine Small	intestine

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