Variant report

Variant	rs12349001
Chromosome Location	chr9:94756094-94756095
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 99 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10115262	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10115565	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10116088	0.92[EUR][1000 genomes]
rs10117143	0.92[EUR][1000 genomes]
rs10117394	0.92[EUR][1000 genomes]
rs10118409	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10118847	0.92[EUR][1000 genomes]
rs10119603	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10119983	0.92[EUR][1000 genomes]
rs10121430	0.92[EUR][1000 genomes]
rs10121694	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10121928	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10122415	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10122798	0.92[EUR][1000 genomes]
rs10124705	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992175	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs10992194	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10992202	0.88[EUR][1000 genomes]
rs10992223	0.92[EUR][1000 genomes]
rs12336291	0.92[EUR][1000 genomes]
rs12336497	0.92[EUR][1000 genomes]
rs12338124	0.92[EUR][1000 genomes]
rs12341602	0.92[EUR][1000 genomes]
rs12341791	0.92[EUR][1000 genomes]
rs12343645	0.92[EUR][1000 genomes]
rs12343647	0.92[EUR][1000 genomes]
rs12344414	0.92[EUR][1000 genomes]
rs12344469	0.81[EUR][1000 genomes]
rs12347966	0.85[EUR][1000 genomes]
rs12348496	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12349327	0.92[EUR][1000 genomes]
rs12352341	0.92[EUR][1000 genomes]
rs12353321	0.84[EUR][1000 genomes]
rs16908113	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16908131	0.92[EUR][1000 genomes]
rs28391324	0.92[EUR][1000 genomes]
rs28429191	0.92[EUR][1000 genomes]
rs28437390	0.92[EUR][1000 genomes]
rs28477960	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28504279	0.92[EUR][1000 genomes]
rs28513744	0.85[EUR][1000 genomes]
rs28552704	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28637477	0.92[EUR][1000 genomes]
rs28735483	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28744634	0.92[EUR][1000 genomes]
rs28759240	0.89[EUR][1000 genomes]
rs28819206	0.92[EUR][1000 genomes]
rs28825409	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4344138	0.92[EUR][1000 genomes]
rs4498616	0.92[EUR][1000 genomes]
rs4560856	0.92[EUR][1000 genomes]
rs4604504	0.92[EUR][1000 genomes]
rs56266486	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57496363	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57862149	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58224960	0.84[EUR][1000 genomes]
rs58679317	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59790820	0.92[EUR][1000 genomes]
rs60230478	0.92[EUR][1000 genomes]
rs60743157	0.92[EUR][1000 genomes]
rs61000917	0.92[EUR][1000 genomes]
rs61246786	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61456615	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61596207	0.92[EUR][1000 genomes]
rs7018595	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7018827	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7021408	0.92[EUR][1000 genomes]
rs7024215	0.92[EUR][1000 genomes]
rs7025703	0.92[EUR][1000 genomes]
rs7027147	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7033888	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7035964	0.82[AMR][1000 genomes]
rs7043019	0.81[EUR][1000 genomes]
rs7045602	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7046206	0.85[EUR][1000 genomes]
rs7047389	0.96[EUR][1000 genomes]
rs73512339	0.84[EUR][1000 genomes]
rs73512378	0.92[EUR][1000 genomes]
rs73520889	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73522907	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73522929	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73527330	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73653014	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7848959	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7851412	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7856148	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7863425	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7867659	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7870339	0.92[EUR][1000 genomes]
rs7870565	0.92[EUR][1000 genomes]
rs7871565	0.92[EUR][1000 genomes]
rs7871997	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9696251	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047426	chr9:94363211-94758114	Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv1046733	chr9:94690622-95138564	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv831653	chr9:94692454-94867542	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv530947	chr9:94697309-95093377	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12349001	SPTLC1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94755600-94757400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:94755800-94758400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:94756000-94757600	Enhancers	Fetal Intestine Large	intestine

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