Variant report

Variant	rs60594237
Chromosome Location	chr15:49672113-49672114
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs1023683	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10519221	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10519226	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10519227	0.80[EUR][1000 genomes]
rs1055254	0.81[EUR][1000 genomes]
rs11630318	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11632038	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11632211	1.00[ASN][1000 genomes]
rs11632303	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11632575	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11633282	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11634636	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11635005	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11635308	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11635354	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11635455	1.00[ASN][1000 genomes]
rs11635814	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11638314	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11638515	0.86[EUR][1000 genomes]
rs11638606	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11639423	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12592277	0.82[EUR][1000 genomes]
rs12913966	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17394970	1.00[ASN][1000 genomes]
rs17396119	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17396536	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17396747	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17397211	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17400427	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17400706	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17400916	1.00[ASN][1000 genomes]
rs17473568	1.00[ASN][1000 genomes]
rs17476361	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17476940	0.82[EUR][1000 genomes]
rs17477722	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17478618	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17479003	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17479205	0.80[EUR][1000 genomes]
rs17479289	0.80[EUR][1000 genomes]
rs2078024	0.82[EUR][1000 genomes]
rs28393768	1.00[ASN][1000 genomes]
rs28408092	1.00[ASN][1000 genomes]
rs28409376	1.00[ASN][1000 genomes]
rs28430272	1.00[ASN][1000 genomes]
rs28484276	1.00[ASN][1000 genomes]
rs28669217	1.00[ASN][1000 genomes]
rs35692325	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57252806	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57749497	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57785991	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59112977	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59356430	0.82[EUR][1000 genomes]
rs61259878	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61442055	1.00[ASN][1000 genomes]
rs7162633	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7165168	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7167474	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7168316	0.80[EUR][1000 genomes]
rs7177624	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73390343	1.00[ASN][1000 genomes]
rs73390360	1.00[ASN][1000 genomes]
rs73390362	1.00[ASN][1000 genomes]
rs73390384	1.00[ASN][1000 genomes]
rs73390392	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73392236	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73392249	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73392256	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73392277	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73392288	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73394324	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73394331	0.94[EUR][1000 genomes]
rs73394333	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73394339	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73394355	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73394357	0.80[EUR][1000 genomes]
rs73394359	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73396206	0.82[EUR][1000 genomes]
rs73396235	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73396238	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73398223	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73398243	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73398272	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73398276	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73398284	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8027094	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8030457	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8033311	0.82[EUR][1000 genomes]
rs8040716	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039368	chr15:49566094-49764066	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv833002	chr15:49621400-49781799	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv442375	chr15:49652524-49684082	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs60594237	FGF7	cis	Muscle Skeletal	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49665000-49673200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr15:49665200-49672200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr15:49670800-49675400	Weak transcription	NHLF	lung
4	chr15:49671000-49674200	Weak transcription	Gastric	stomach
5	chr15:49671200-49672400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr15:49672000-49672200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr15:49672000-49673400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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