Variant report

Variant	rs621996
Chromosome Location	chr1:70583889-70583890
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10493468	0.80[EUR][1000 genomes]
rs583035	0.81[CEU][hapmap];0.87[MEX][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs587562	0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.98[MKK][hapmap];0.90[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs616511	0.81[EUR][1000 genomes]
rs622549	0.81[EUR][1000 genomes]
rs633346	0.81[EUR][1000 genomes]
rs636429	0.81[CHB][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs650740	0.82[CHB][hapmap]
rs659181	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs661765	0.81[CEU][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs663251	0.87[AMR][1000 genomes]
rs674706	0.81[EUR][1000 genomes]
rs687531	0.80[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531879	chr1:70386455-70644617	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs621996	CTH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70557000-70599600	Weak transcription	Fetal Brain Female	brain
2	chr1:70583800-70599600	Weak transcription	Fetal Heart	heart

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