Variant report

Variant	rs692335
Chromosome Location	chr15:41486257-41486258
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:41485714-41486631	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC012652.1.1-5	chr15:41485541-41487747	predAs_engstrom06_AA043058_1

Variant related genes	Relation type
RN7SL497P	TF binding region
EXD1	TF binding region

Extended variants
information (count: 72 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs11070321	0.85[ASN][1000 genomes]
rs11855102	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11858678	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12324159	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1659227	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1717198	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1971131	0.85[ASN][1000 genomes]
rs2578655	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2899013	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2928141	0.84[ASN][1000 genomes]
rs537244	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs551482	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55756301	0.80[ASN][1000 genomes]
rs56082289	0.80[ASN][1000 genomes]
rs561301	0.80[EUR][1000 genomes]
rs56837771	0.86[ASN][1000 genomes]
rs57943533	0.85[ASN][1000 genomes]
rs58083671	0.83[ASN][1000 genomes]
rs58644012	0.83[ASN][1000 genomes]
rs59389433	0.80[ASN][1000 genomes]
rs59616518	0.83[ASN][1000 genomes]
rs59691280	0.80[ASN][1000 genomes]
rs60249025	0.83[ASN][1000 genomes]
rs60422198	0.83[ASN][1000 genomes]
rs61495227	0.82[ASN][1000 genomes]
rs61586152	0.82[ASN][1000 genomes]
rs6492988	0.86[ASN][1000 genomes]
rs6492991	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6492993	0.81[EUR][1000 genomes]
rs66471237	0.82[ASN][1000 genomes]
rs66510055	0.81[ASN][1000 genomes]
rs66602495	0.82[ASN][1000 genomes]
rs67531333	0.81[ASN][1000 genomes]
rs68133575	0.83[ASN][1000 genomes]
rs690733	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs691672	0.80[EUR][1000 genomes]
rs691702	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs692153	0.83[EUR][1000 genomes]
rs692195	0.80[EUR][1000 genomes]
rs7165931	0.86[ASN][1000 genomes]
rs7166205	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7166905	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7170049	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7170913	0.83[ASN][1000 genomes]
rs7173086	0.83[ASN][1000 genomes]
rs7173841	0.81[EUR][1000 genomes]
rs7178840	0.80[ASN][1000 genomes]
rs7179231	0.80[ASN][1000 genomes]
rs7179676	0.86[ASN][1000 genomes]
rs7179969	0.80[ASN][1000 genomes]
rs72737765	0.82[ASN][1000 genomes]
rs73396329	0.82[ASN][1000 genomes]
rs73396336	0.83[ASN][1000 genomes]
rs8023638	0.84[ASN][1000 genomes]
rs8026858	0.83[ASN][1000 genomes]
rs8029792	0.83[ASN][1000 genomes]
rs8033435	0.80[EUR][1000 genomes]
rs8035252	0.80[ASN][1000 genomes]
rs8037302	0.81[ASN][1000 genomes]
rs8038834	0.83[ASN][1000 genomes]
rs8039915	0.80[ASN][1000 genomes]
rs8039934	0.83[ASN][1000 genomes]
rs9888718	0.81[EUR][1000 genomes]
rs9972345	0.86[ASN][1000 genomes]
rs9972349	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9972622	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9972623	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904107	chr15:41361138-41493013	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv904108	chr15:41384649-41486990	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv457120	chr15:41410705-41546631	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv569231	chr15:41410705-41546631	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1039906	chr15:41476209-41518976	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs692335	NDUFAF1	cis	Heart Left Ventricle	GTEx
rs692335	NDUFAF1	cis	Esophagus Muscularis	GTEx
rs692335	NDUFAF1	Cis_1M	lymphoblastoid	RTeQTL
rs692335	NDUFAF1	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41484400-41494400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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