Variant report

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1735700	0.88[ASN][1000 genomes]
rs2205454	0.92[ASN][1000 genomes]
rs2823522	0.92[ASN][1000 genomes]
rs2823524	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs366592	0.84[ASN][1000 genomes]
rs373182	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs380087	0.86[ASN][1000 genomes]
rs407921	0.81[EUR][1000 genomes]
rs413785	0.91[ASN][1000 genomes]
rs416719	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs419509	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs420590	0.93[ASN][1000 genomes]
rs425252	0.93[ASN][1000 genomes]
rs433085	0.92[ASN][1000 genomes]
rs435947	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs444390	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs446216	0.92[ASN][1000 genomes]
rs68109293	0.93[ASN][1000 genomes]
rs7348985	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9978096	0.92[ASN][1000 genomes]
rs9984156	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834050	chr21:17146090-17348951	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv3463	chr21:17327119-17343458	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv1064664	chr21:17336936-17405756	Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17337400-17340000	Weak transcription	NHEK	skin
2	chr21:17337600-17340400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr21:17338000-17340400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr21:17339200-17340200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr21:17339800-17340600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr21:17339800-17340600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr21:17339800-17340600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr21:17339800-17340600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr21:17339800-17340600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr21:17339800-17340800	Enhancers	HMEC	breast
11	chr21:17339800-17340800	Enhancers	HSMM	muscle
12	chr21:17339800-17340800	Enhancers	HSMMtube	muscle

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