Variant report

Variant	rs1236216
Chromosome Location	chr21:28479114-28479115
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1236213	0.94[ASN][1000 genomes]
rs1236214	0.97[ASN][1000 genomes]
rs1236215	0.95[ASN][1000 genomes]
rs1236217	1.00[ASN][1000 genomes]
rs13052896	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2830659	0.81[EUR][1000 genomes]
rs2830662	0.81[EUR][1000 genomes]
rs2830684	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2830689	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2830698	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2830715	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2830716	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34618216	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7275831	0.81[EUR][1000 genomes]
rs7278482	0.81[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	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	esv2758532	chr21:28380230-28540443	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	esv2758817	chr21:28380230-28540443	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
4	nsv1062808	chr21:28443252-28537209	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
5	nsv544414	chr21:28443252-28537209	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28477200-28479400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr21:28478000-28480400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr21:28478000-28480600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr21:28478000-28480600	Weak transcription	HSMMtube	muscle
5	chr21:28478000-28480600	Weak transcription	NHEK	skin
6	chr21:28478000-28483200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr21:28478200-28479400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr21:28478200-28480600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr21:28478200-28480600	Weak transcription	NHDF-Ad	bronchial
10	chr21:28478200-28480800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr21:28478200-28483400	Weak transcription	Ovary	ovary
12	chr21:28478200-28483600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr21:28478400-28480400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr21:28478400-28480600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr21:28478600-28480800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr21:28478800-28479400	Enhancers	Placenta	Placenta
17	chr21:28478800-28480600	Weak transcription	Fetal Kidney	kidney
18	chr21:28479000-28480600	Weak transcription	Osteobl	bone

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dbSNP/dbVar ID: rs12345 /nsv7879
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