Variant report

Variant	rs2830918
Chromosome Location	chr21:28778148-28778149
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1376928	0.82[EUR][1000 genomes]
rs1452102	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2000760	0.81[EUR][1000 genomes]
rs2830907	0.81[EUR][1000 genomes]
rs2830913	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2830925	0.81[EUR][1000 genomes]
rs28564825	0.80[EUR][1000 genomes]
rs62223497	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62223500	0.81[EUR][1000 genomes]
rs9976529	0.83[EUR][1000 genomes];0.95[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	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	nsv913666	chr21:28687650-28810976	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv916307	chr21:28762455-28905095	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2830918	KRTAP26-1	cis	cerebellum	SCAN
rs2830918	MRPL39	cis	cerebellum	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28772600-28786200	Weak transcription	Fetal Heart	heart
2	chr21:28774000-28778800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr21:28777000-28780000	Enhancers	NHDF-Ad	bronchial
4	chr21:28777200-28778800	Enhancers	Fetal Lung	lung
5	chr21:28777400-28778400	Enhancers	Ovary	ovary
6	chr21:28777400-28778400	Weak transcription	Osteobl	bone
7	chr21:28777400-28781400	Weak transcription	Fetal Muscle Leg	muscle
8	chr21:28777600-28781000	Enhancers	Fetal Stomach	stomach
9	chr21:28777800-28778800	Weak transcription	Fetal Kidney	kidney
10	chr21:28777800-28780000	Enhancers	Adipose Nuclei	Adipose
11	chr21:28778000-28780000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

Quick Search:

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

what's new

Quick links