Variant report

Variant	rs17716398
Chromosome Location	chr21:29019724-29019725
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs10482986	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1059423	chr21:28957144-29306656	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:29017400-29021200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr21:29017600-29021200	Enhancers	Muscle Satellite Cultured Cells	--
3	chr21:29017600-29022400	Enhancers	NHDF-Ad	bronchial
4	chr21:29017600-29022400	Enhancers	NHEK	skin
5	chr21:29017800-29020200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr21:29017800-29021800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr21:29017800-29022400	Enhancers	HMEC	breast
8	chr21:29018000-29020000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr21:29018000-29020800	Weak transcription	NH-A	brain
10	chr21:29018000-29021200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr21:29018200-29019800	Weak transcription	HSMM	muscle
12	chr21:29018200-29021000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr21:29019000-29021400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr21:29019000-29022200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr21:29019000-29022400	Enhancers	HUVEC	blood vessel
16	chr21:29019400-29020400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr21:29019400-29022200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr21:29019400-29022400	Enhancers	Osteobl	bone

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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