Variant report

Variant	rs9981617
Chromosome Location	chr21:29112146-29112147
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10482987	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10482988	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11911239	1.00[EUR][1000 genomes]
rs12482414	1.00[EUR][1000 genomes]
rs1431361	1.00[EUR][1000 genomes]
rs1431363	1.00[EUR][1000 genomes]
rs1431365	1.00[EUR][1000 genomes]
rs1431367	1.00[EUR][1000 genomes]
rs16981091	1.00[EUR][1000 genomes]
rs16981099	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2831069	1.00[EUR][1000 genomes]
rs2831104	1.00[EUR][1000 genomes]
rs2831110	1.00[EUR][1000 genomes]
rs2831112	1.00[EUR][1000 genomes]
rs2831113	1.00[EUR][1000 genomes]
rs2831120	1.00[EUR][1000 genomes]
rs2831121	1.00[EUR][1000 genomes]
rs2831136	1.00[EUR][1000 genomes]
rs28371131	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28447510	1.00[EUR][1000 genomes]
rs28464665	1.00[EUR][1000 genomes]
rs28672074	1.00[EUR][1000 genomes]
rs28709935	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28796720	1.00[EUR][1000 genomes]
rs5002119	1.00[EUR][1000 genomes]
rs56774116	1.00[EUR][1000 genomes]
rs57274057	1.00[EUR][1000 genomes]
rs57431839	1.00[EUR][1000 genomes]
rs57645042	1.00[EUR][1000 genomes]
rs59123522	1.00[EUR][1000 genomes]
rs59438303	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60393902	1.00[EUR][1000 genomes]
rs6516773	1.00[EUR][1000 genomes]
rs6516778	1.00[EUR][1000 genomes]
rs6516779	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6516780	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7275530	1.00[EUR][1000 genomes]
rs7275805	1.00[EUR][1000 genomes]
rs7277044	1.00[EUR][1000 genomes]
rs7277941	1.00[EUR][1000 genomes]
rs7278044	1.00[EUR][1000 genomes]
rs7279786	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7279812	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7279944	1.00[EUR][1000 genomes]
rs7280183	1.00[EUR][1000 genomes]
rs7282084	1.00[EUR][1000 genomes]
rs7282926	1.00[EUR][1000 genomes]
rs73388102	1.00[EUR][1000 genomes]
rs73901891	1.00[EUR][1000 genomes]
rs73901894	1.00[EUR][1000 genomes]
rs8127316	0.83[AFR][1000 genomes]
rs8128349	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8133210	1.00[EUR][1000 genomes]
rs8134876	1.00[EUR][1000 genomes]
rs9305332	1.00[EUR][1000 genomes]
rs9974260	1.00[EUR][1000 genomes]
rs9976745	1.00[EUR][1000 genomes]
rs9977384	1.00[EUR][1000 genomes]
rs9978827	1.00[EUR][1000 genomes]
rs9982568	1.00[EUR][1000 genomes]
rs9982894	1.00[EUR][1000 genomes]
rs9982905	1.00[EUR][1000 genomes]
rs9983028	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9983125	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9983150	1.00[EUR][1000 genomes]
rs9983153	1.00[EUR][1000 genomes]
rs9983357	1.00[EUR][1000 genomes]
rs9983945	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9984742	1.00[EUR][1000 genomes]
rs9984856	1.00[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	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
2	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
3	nsv1059423	chr21:28957144-29306656	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv913670	chr21:29022265-29525767	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1059134	chr21:29061408-29188185	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:29106600-29112400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr21:29111200-29112600	Enhancers	Colon Smooth Muscle	Colon
3	chr21:29111400-29112200	Enhancers	Duodenum Smooth Muscle	Duodenum
4	chr21:29111600-29112400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr21:29111600-29112800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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