Variant report

Variant	rs9576194
Chromosome Location	chr13:37738583-37738584
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs11147624	0.81[CHD][hapmap]
rs11147625	0.81[CHD][hapmap]
rs11147626	0.81[CHD][hapmap]
rs11147627	0.81[CHD][hapmap]
rs11616599	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1336758	0.84[EUR][1000 genomes]
rs1336759	0.84[EUR][1000 genomes]
rs1336760	0.87[EUR][1000 genomes]
rs1359212	0.80[CHB][hapmap]
rs1415073	0.84[EUR][1000 genomes]
rs1591586	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17822604	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1806525	0.85[EUR][1000 genomes]
rs1832251	0.85[EUR][1000 genomes]
rs2036990	0.85[EUR][1000 genomes]
rs2036991	0.85[EUR][1000 genomes]
rs2050567	0.85[EUR][1000 genomes]
rs3858861	0.85[EUR][1000 genomes]
rs3858862	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4054538	0.85[EUR][1000 genomes]
rs4054539	0.85[EUR][1000 genomes]
rs4054541	0.85[EUR][1000 genomes]
rs4098253	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4098254	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4359318	0.86[CHB][hapmap]
rs4463963	0.83[EUR][1000 genomes]
rs4485227	0.86[EUR][1000 genomes]
rs4519211	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4601911	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4943445	0.88[CHD][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes]
rs4943446	0.85[EUR][1000 genomes]
rs4943447	0.85[EUR][1000 genomes]
rs4943448	0.85[EUR][1000 genomes]
rs4943453	0.80[CHB][hapmap]
rs61120216	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61135832	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6563514	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6563515	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72621290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7327488	0.84[EUR][1000 genomes]
rs7330353	0.85[EUR][1000 genomes]
rs7330721	0.84[EUR][1000 genomes]
rs7331543	0.85[EUR][1000 genomes]
rs7332263	0.85[EUR][1000 genomes]
rs7337345	0.85[EUR][1000 genomes]
rs7982863	0.85[EUR][1000 genomes]
rs7983320	1.00[ASN][1000 genomes]
rs7985799	0.85[EUR][1000 genomes]
rs7993874	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7994726	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7995878	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7996734	0.96[ASN][1000 genomes]
rs8000468	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs883514	0.84[EUR][1000 genomes]
rs883527	0.85[EUR][1000 genomes]
rs9285112	0.83[EUR][1000 genomes]
rs9315473	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs938214	0.85[EUR][1000 genomes]
rs938216	0.85[EUR][1000 genomes]
rs938217	0.85[EUR][1000 genomes]
rs9547735	0.84[EUR][1000 genomes]
rs9566178	0.81[CHD][hapmap]
rs9566189	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9566190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9566191	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9566192	0.99[ASN][1000 genomes]
rs9576177	0.84[CHD][hapmap]
rs9576195	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9576196	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9576197	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9576198	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9576199	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9576200	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9576201	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9576203	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9576204	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9576206	0.99[ASN][1000 genomes]
rs9603143	0.86[EUR][1000 genomes]
rs9788310	0.99[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	nsv948975	chr13:37281203-38280430	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9576194	UFM1	cis	parietal	SCAN
rs9576194	ZAR1L	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:37722400-37740600	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr13:37737400-37739000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr13:37737400-37739000	Enhancers	NHDF-Ad	bronchial
4	chr13:37737800-37738600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr13:37737800-37739000	Enhancers	Fetal Brain Male	brain

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