Variant report

Variant	rs34457750
Chromosome Location	chr1:222626141-222626142
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17463531	1.00[ASN][1000 genomes]
rs17509774	1.00[ASN][1000 genomes]
rs3002131	1.00[ASN][1000 genomes]
rs34747518	1.00[ASN][1000 genomes]
rs35458674	1.00[ASN][1000 genomes]
rs35784999	0.88[AFR][1000 genomes]
rs35932524	1.00[ASN][1000 genomes]
rs4400619	1.00[ASN][1000 genomes]
rs72734194	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873203	chr1:222332906-222775000	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222614800-222628000	Weak transcription	Fetal Heart	heart
2	chr1:222615000-222628000	Weak transcription	Pancreas	Pancrea
3	chr1:222623600-222628000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:222624600-222627600	Weak transcription	Fetal Muscle Leg	muscle
5	chr1:222624800-222627200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:222625200-222628000	Weak transcription	Aorta	Aorta
7	chr1:222626000-222626400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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