Variant report

Variant	rs229077
Chromosome Location	chr21:28295339-28295340
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:27211146..27213931-chr21:28295313..28297044,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs151057	0.94[EUR][1000 genomes]
rs162487	0.89[EUR][1000 genomes]
rs162495	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs162512	0.93[EUR][1000 genomes]
rs162514	0.93[EUR][1000 genomes]
rs162515	0.93[EUR][1000 genomes]
rs162517	0.93[EUR][1000 genomes]
rs162518	0.93[EUR][1000 genomes]
rs162519	0.92[EUR][1000 genomes]
rs162522	0.92[EUR][1000 genomes]
rs162523	0.93[EUR][1000 genomes]
rs162524	0.93[EUR][1000 genomes]
rs162525	0.93[EUR][1000 genomes]
rs162526	0.93[EUR][1000 genomes]
rs162527	0.91[EUR][1000 genomes]
rs162528	0.91[EUR][1000 genomes]
rs162529	0.91[EUR][1000 genomes]
rs162530	0.91[EUR][1000 genomes]
rs170655	0.89[EUR][1000 genomes]
rs170657	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs229051	0.89[EUR][1000 genomes]
rs229053	0.83[EUR][1000 genomes]
rs229059	0.93[EUR][1000 genomes]
rs229062	0.93[EUR][1000 genomes]
rs229066	0.92[EUR][1000 genomes]
rs229068	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs229072	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs229073	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs229074	0.93[EUR][1000 genomes]
rs229086	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35650435	0.91[EUR][1000 genomes]
rs438349	0.89[EUR][1000 genomes]
rs459804	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
6	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
7	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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28289600-28296000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr21:28289600-28296000	Weak transcription	Ovary	ovary
3	chr21:28289600-28298000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr21:28289800-28295600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr21:28290800-28296200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr21:28290800-28297200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr21:28291000-28297600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr21:28291000-28297800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr21:28291000-28311800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr21:28291200-28295800	Weak transcription	Fetal Intestine Large	intestine
11	chr21:28291200-28297400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr21:28291400-28297600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr21:28291400-28299400	Weak transcription	NHLF	lung
14	chr21:28291600-28312200	Strong transcription	HSMM	muscle
15	chr21:28291800-28296200	Strong transcription	HSMMtube	muscle
16	chr21:28292600-28296200	Weak transcription	Left Ventricle	heart
17	chr21:28292800-28295400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr21:28292800-28298400	Weak transcription	Pancreas	Pancrea
19	chr21:28293000-28298000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr21:28293000-28334800	Weak transcription	Hela-S3	cervix
21	chr21:28293200-28297400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr21:28293800-28297000	Strong transcription	NHDF-Ad	bronchial
23	chr21:28293800-28298200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr21:28293800-28303600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr21:28294000-28295800	Weak transcription	Fetal Muscle Leg	muscle
26	chr21:28294400-28296000	Weak transcription	Fetal Lung	lung
27	chr21:28294600-28296200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr21:28294600-28296200	Weak transcription	Fetal Stomach	stomach
29	chr21:28294600-28305800	Weak transcription	Small Intestine	intestine
30	chr21:28294600-28318000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr21:28294600-28318200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr21:28294800-28298000	Weak transcription	Placenta	Placenta
33	chr21:28294800-28307200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr21:28295000-28296200	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr21:28295000-28297000	Strong transcription	Fetal Kidney	kidney
36	chr21:28295000-28303600	Weak transcription	Fetal Intestine Small	intestine
37	chr21:28295200-28297000	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr21:28295200-28306600	Strong transcription	Osteobl	bone
39	chr21:28295200-28310000	Strong transcription	Adipose Nuclei	Adipose

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