Variant report

Variant	rs4695381
Chromosome Location	chr4:48463554-48463555
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48461047..48463475-chr4:48463503..48465946,2	MCF-7	breast:
2	chr4:48462803..48464644-chr4:48465855..48467881,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10029785	0.91[JPT][hapmap]
rs1015699	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10805168	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11731383	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12503644	0.86[EUR][1000 genomes]
rs12645951	0.91[JPT][hapmap]
rs13150017	0.84[ASN][1000 genomes]
rs1352434	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1472967	0.91[JPT][hapmap]
rs1488647	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1586540	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16861305	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1948167	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2291474	0.91[JPT][hapmap]
rs2291475	0.91[JPT][hapmap]
rs2353314	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2353315	0.90[EUR][1000 genomes]
rs2353855	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34975258	0.87[EUR][1000 genomes]
rs35758434	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs392187	0.91[JPT][hapmap]
rs404445	0.91[JPT][hapmap]
rs411261	0.91[JPT][hapmap]
rs421833	0.91[JPT][hapmap]
rs4694895	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4695377	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62309455	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62309458	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6816010	0.91[JPT][hapmap]
rs6821277	0.91[JPT][hapmap]
rs6834339	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6848073	0.91[JPT][hapmap]
rs7438704	0.91[JPT][hapmap]
rs7438713	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470034	chr4:48427773-48605628	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv594121	chr4:48427773-48605628	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
3	nsv1005268	chr4:48444307-48484389	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv537086	chr4:48444307-48484389	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4695381	SLAIN2	Cis_1M	lymphoblastoid	RTeQTL
rs4695381	SLC10A4	cis	lung	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48463400-48463800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:48463400-48464000	Enhancers	Duodenum Mucosa	Duodenum

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