Variant report

Variant	rs7124508
Chromosome Location	chr11:45297599-45297600
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1000665	0.90[ASW][hapmap];1.00[CEU][hapmap];0.95[GIH][hapmap];0.93[LWK][hapmap];0.84[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10769137	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10838436	0.83[GIH][hapmap]
rs10838439	0.82[CEU][hapmap];0.89[EUR][1000 genomes]
rs11038371	0.85[EUR][1000 genomes]
rs12362429	0.90[ASW][hapmap];0.89[GIH][hapmap]
rs12362444	0.90[ASW][hapmap];0.89[GIH][hapmap];0.82[MKK][hapmap]
rs2863179	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2863183	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4755308	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4755940	0.87[GIH][hapmap]
rs751197	0.85[EUR][1000 genomes]
rs751198	0.81[CEU][hapmap];0.89[GIH][hapmap];0.83[LWK][hapmap];0.93[TSI][hapmap];0.85[EUR][1000 genomes]
rs751995	0.81[CEU][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7935226	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7124508	SYT13	cis	normal skin	skin_eQTL
rs7124508	SYT13	cis	cerebellum	SCAN
rs7124508	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	chr11:45294800-45297600	Enhancers	Fetal Brain Female	brain
2	chr11:45294800-45299000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:45295200-45303600	Weak transcription	Fetal Intestine Small	intestine
4	chr11:45297000-45297600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:45297400-45299000	Weak transcription	Fetal Brain Male	brain

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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

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