Variant report

Variant	rs11700721
Chromosome Location	chr21:28293924-28293925
allele	C/T
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:26)

rs_ID	r²[population]
rs10482979	0.89[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap];0.94[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13047132	0.95[EUR][1000 genomes]
rs13047248	0.96[EUR][1000 genomes]
rs13048083	0.96[EUR][1000 genomes]
rs13051983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1444269	0.80[CEU][hapmap];0.94[TSI][hapmap];0.96[EUR][1000 genomes]
rs1444273	1.00[ASN][1000 genomes]
rs149415	0.97[EUR][1000 genomes]
rs2017616	0.96[EUR][1000 genomes]
rs229053	1.00[CHD][hapmap]
rs2830576	1.00[ASN][1000 genomes]
rs2830578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2830590	0.89[CEU][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2830591	0.89[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap];0.94[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3171407	0.97[EUR][1000 genomes]
rs34609314	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35197958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35274919	1.00[ASN][1000 genomes]
rs35275133	1.00[ASN][1000 genomes]
rs36125779	0.96[EUR][1000 genomes]
rs3746836	0.80[CEU][hapmap];0.97[TSI][hapmap];0.97[EUR][1000 genomes]
rs62215975	1.00[ASN][1000 genomes]
rs62215996	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7283958	0.96[EUR][1000 genomes]
rs8130155	0.82[TSI][hapmap]
rs965135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066573	chr21:28096356-28374354	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1057400	chr21:28104936-28359948	Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv834068	chr21:28179670-28360808	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	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
5	nsv1063371	chr21:28282660-28294991	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	lncRNA	n/a	inside rSNPs	diseases
6	nsv1065825	chr21:28282660-28296389	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases
7	nsv1067026	chr21:28282660-28298049	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases
8	nsv1066904	chr21:28282834-28296389	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28282400-28295000	Weak transcription	Fetal Kidney	kidney
2	chr21:28289600-28295200	Weak transcription	Adipose Nuclei	Adipose
3	chr21:28289600-28296000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr21:28289600-28296000	Weak transcription	Ovary	ovary
5	chr21:28289600-28298000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr21:28289800-28295600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr21:28290800-28296200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr21:28290800-28297200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr21:28291000-28297600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr21:28291000-28297800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr21:28291000-28311800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr21:28291200-28295800	Weak transcription	Fetal Intestine Large	intestine
13	chr21:28291200-28297400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr21:28291400-28295200	Weak transcription	Osteobl	bone
15	chr21:28291400-28297600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr21:28291400-28299400	Weak transcription	NHLF	lung
17	chr21:28291600-28312200	Strong transcription	HSMM	muscle
18	chr21:28291800-28296200	Strong transcription	HSMMtube	muscle
19	chr21:28292600-28295200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr21:28292600-28296200	Weak transcription	Left Ventricle	heart
21	chr21:28292800-28295400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr21:28292800-28298400	Weak transcription	Pancreas	Pancrea
23	chr21:28293000-28298000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr21:28293000-28334800	Weak transcription	Hela-S3	cervix
25	chr21:28293200-28294800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr21:28293200-28297400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr21:28293800-28297000	Strong transcription	NHDF-Ad	bronchial
28	chr21:28293800-28298200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr21:28293800-28303600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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