Variant report

Variant	rs751995
Chromosome Location	chr11:45296118-45296119
allele	C/G
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:14)

rs_ID	r²[population]
rs1000665	0.81[CEU][hapmap];0.88[EUR][1000 genomes]
rs10769137	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10838439	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10838447	0.85[AMR][1000 genomes]
rs10838448	0.85[AMR][1000 genomes]
rs12362429	0.81[CEU][hapmap];0.84[EUR][1000 genomes]
rs12362444	0.81[CEU][hapmap];0.84[EUR][1000 genomes]
rs12362448	0.84[EUR][1000 genomes]
rs2863183	0.83[CEU][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4755308	0.90[EUR][1000 genomes]
rs4755940	0.81[CEU][hapmap];0.84[EUR][1000 genomes]
rs7124508	0.81[CEU][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7935226	0.83[CEU][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7942231	0.98[AFR][1000 genomes];0.82[EUR][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	nsv530619	chr11:45294176-45553928	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs751995	SYT13	cis	normal skin	skin_eQTL
rs751995	SYT13	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45294800-45297400	Enhancers	Fetal Brain Male	brain
2	chr11:45294800-45297600	Enhancers	Fetal Brain Female	brain
3	chr11:45294800-45299000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:45295200-45296800	Weak transcription	HMEC	breast
5	chr11:45295200-45303600	Weak transcription	Fetal Intestine Small	intestine

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