Variant report

Variant	rs1236214
Chromosome Location	chr21:28478606-28478607
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1236213	0.97[ASN][1000 genomes]
rs1236215	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1236216	0.97[ASN][1000 genomes]
rs1236217	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13052896	0.83[ASN][1000 genomes]
rs2830684	0.99[ASN][1000 genomes]
rs2830689	0.99[ASN][1000 genomes]
rs2830698	0.95[ASN][1000 genomes]
rs2830715	0.87[ASN][1000 genomes]
rs2830716	0.86[ASN][1000 genomes]
rs34618216	0.86[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	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	chr21:28477600-28478800	Enhancers	Fetal Kidney	kidney
3	chr21:28477600-28479000	Enhancers	Osteobl	bone
4	chr21:28478000-28480400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr21:28478000-28480600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr21:28478000-28480600	Weak transcription	HSMMtube	muscle
7	chr21:28478000-28480600	Weak transcription	NHEK	skin
8	chr21:28478000-28483200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr21:28478200-28478800	Weak transcription	Placenta	Placenta
10	chr21:28478200-28479400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr21:28478200-28480600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr21:28478200-28480600	Weak transcription	NHDF-Ad	bronchial
13	chr21:28478200-28480800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr21:28478200-28483400	Weak transcription	Ovary	ovary
15	chr21:28478200-28483600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr21:28478400-28480400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr21:28478400-28480600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr21:28478600-28480800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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