Variant report

Variant	rs73379246
Chromosome Location	chr21:45951413-45951414
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11910078	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11910294	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11910302	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11910479	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11910616	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11910822	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11911092	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11911668	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11911774	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11911853	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11911873	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17004660	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17004662	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17004663	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17004665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1976472	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2838584	0.85[AMR][1000 genomes]
rs57003632	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs59128130	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61335515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73379203	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73379211	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73379229	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73379230	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73910019	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	esv3361489	chr21:45669073-46013747	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
3	nsv913943	chr21:45740823-46031810	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	nsv913946	chr21:45838632-46031810	Bivalent Enhancer ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv913948	chr21:45860912-46031810	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv1056424	chr21:45894901-46031810	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv544475	chr21:45894901-46031810	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv1055163	chr21:45895663-46031810	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv459297	chr21:45941000-45989488	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv587803	chr21:45941000-45989488	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv1065798	chr21:45941000-46097463	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	nsv869108	chr21:45941000-46097463	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	nsv544476	chr21:45941000-46097463	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45916800-45951600	Weak transcription	Right Atrium	heart
2	chr21:45950600-45951600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr21:45951000-45953600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr21:45951200-45953200	Enhancers	Fetal Muscle Leg	muscle

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