Variant report

Variant	rs2830932
Chromosome Location	chr21:28798590-28798591
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16980566	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16980647	0.93[JPT][hapmap];0.88[AMR][1000 genomes]
rs183006	0.82[EUR][1000 genomes]
rs1979179	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1979180	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1979181	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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	0.88[CEU][hapmap];0.93[JPT][hapmap];0.87[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];0.84[ASN][1000 genomes]
rs2830930	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2830931	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2830934	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2830936	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2830937	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2830938	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56865146	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57333997	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59472353	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72635039	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72635040	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72635041	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72635042	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28789400-28802000	Weak transcription	Left Ventricle	heart
2	chr21:28793000-28798800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr21:28793800-28798600	Enhancers	Osteobl	bone
4	chr21:28793800-28798800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr21:28793800-28799000	Enhancers	NHDF-Ad	bronchial
6	chr21:28794000-28798600	Enhancers	Adipose Nuclei	Adipose
7	chr21:28794000-28798600	Enhancers	NHLF	lung
8	chr21:28794000-28799200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr21:28794200-28798800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr21:28794200-28799000	Enhancers	HSMM	muscle
11	chr21:28794600-28798600	Enhancers	Placenta Amnion	Placenta Amnion
12	chr21:28794600-28798800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr21:28794600-28798800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr21:28794600-28798800	Enhancers	HMEC	breast
15	chr21:28795600-28801800	Weak transcription	Aorta	Aorta
16	chr21:28796600-28801800	Weak transcription	Fetal Stomach	stomach
17	chr21:28796800-28798800	Enhancers	HSMMtube	muscle
18	chr21:28797800-28801800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr21:28798000-28801800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr21:28798200-28798600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr21:28798200-28800600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr21:28798200-28801600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr21:28798200-28801800	Weak transcription	Right Ventricle	heart
24	chr21:28798400-28798600	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr21:28798400-28801800	Weak transcription	Ovary	ovary
26	chr21:28798400-28801800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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