Variant report

Variant	rs2830938
Chromosome Location	chr21:28801333-28801334
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs16980566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16980647	0.93[JPT][hapmap];0.90[MEX][hapmap];0.83[AMR][1000 genomes]
rs183006	0.82[EUR][1000 genomes]
rs1979179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1979180	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1979181	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs239659	0.82[EUR][1000 genomes]
rs239661	0.82[EUR][1000 genomes]
rs239662	0.82[EUR][1000 genomes]
rs239663	0.83[EUR][1000 genomes]
rs239664	0.82[EUR][1000 genomes]
rs239666	0.82[EUR][1000 genomes]
rs239678	0.82[EUR][1000 genomes]
rs2409206	0.89[CEU][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2830928	1.00[CEU][hapmap];0.86[CHB][hapmap];0.92[JPT][hapmap];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2830930	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2830931	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2830932	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2830934	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2830936	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2830937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56865146	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57333997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59472353	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72635039	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72635040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72635041	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72635042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][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	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
6	nsv913667	chr21:28798703-28887357	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28789400-28802000	Weak transcription	Left Ventricle	heart
2	chr21:28795600-28801800	Weak transcription	Aorta	Aorta
3	chr21:28796600-28801800	Weak transcription	Fetal Stomach	stomach
4	chr21:28797800-28801800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr21:28798000-28801800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr21:28798200-28801600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr21:28798200-28801800	Weak transcription	Right Ventricle	heart
8	chr21:28798400-28801800	Weak transcription	Ovary	ovary
9	chr21:28798400-28801800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr21:28798600-28801800	Weak transcription	Adipose Nuclei	Adipose
11	chr21:28798600-28801800	Weak transcription	NHLF	lung
12	chr21:28798600-28801800	Weak transcription	Osteobl	bone
13	chr21:28798800-28801600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr21:28798800-28801600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr21:28798800-28801800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr21:28798800-28801800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr21:28798800-28802000	Weak transcription	HSMMtube	muscle
18	chr21:28799000-28801400	Weak transcription	NHDF-Ad	bronchial
19	chr21:28799000-28802000	Weak transcription	HSMM	muscle
20	chr21:28799200-28802000	Weak transcription	Muscle Satellite Cultured Cells	--

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