Variant report

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs16980566	0.82[EUR][1000 genomes]
rs183006	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1979179	0.82[EUR][1000 genomes]
rs1979181	0.82[EUR][1000 genomes]
rs239659	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs239661	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs239662	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs239663	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs239666	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs239667	0.92[EUR][1000 genomes]
rs239674	0.92[EUR][1000 genomes]
rs239678	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2830928	0.81[CEU][hapmap];0.85[EUR][1000 genomes]
rs2830931	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs2830932	0.82[EUR][1000 genomes]
rs2830934	0.82[EUR][1000 genomes]
rs2830936	0.82[EUR][1000 genomes]
rs2830937	0.82[EUR][1000 genomes]
rs2830938	0.82[EUR][1000 genomes]
rs56865146	0.82[EUR][1000 genomes]
rs57333997	0.81[EUR][1000 genomes]
rs59472353	0.82[EUR][1000 genomes]
rs72635039	0.82[EUR][1000 genomes]
rs72635040	0.82[EUR][1000 genomes]
rs72635041	0.82[EUR][1000 genomes]
rs72635042	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv916307	chr21:28762455-28905095	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28772600-28786200	Weak transcription	Fetal Heart	heart
2	chr21:28779000-28786000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr21:28779800-28785600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr21:28780000-28785400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr21:28780000-28789000	Weak transcription	Spleen	Spleen
6	chr21:28780000-28789200	Weak transcription	Gastric	stomach
7	chr21:28783000-28784600	Enhancers	Fetal Intestine Small	intestine
8	chr21:28783200-28783800	Enhancers	Fetal Intestine Large	intestine
9	chr21:28783400-28783800	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr21:28783400-28784000	Enhancers	Duodenum Mucosa	Duodenum
11	chr21:28783400-28784600	Enhancers	Rectal Mucosa Donor 31	rectum

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