Variant report

Variant	rs2221490
Chromosome Location	chr5:40641763-40641764
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11739531	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6451533	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6882769	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7716982	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7730020	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	nsv880993	chr5:40521648-40682550	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2221490	TTC33	Cis_1M	lymphoblastoid	RTeQTL
rs2221490	RPL37	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40640800-40642400	Enhancers	Dnd41	blood
2	chr5:40641200-40642000	Enhancers	Primary T cells from cord blood	blood
3	chr5:40641200-40642400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:40641400-40641800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr5:40641400-40641800	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr5:40641400-40641800	Enhancers	Hela-S3	cervix
7	chr5:40641600-40642200	Weak transcription	HMEC	breast
8	chr5:40641600-40646000	Weak transcription	HUVEC	blood vessel

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