Variant report

Variant	rs4377959
Chromosome Location	chr8:63899199-63899200
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10090886	0.81[EUR][1000 genomes]
rs10100456	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10106324	1.00[CHB][hapmap];0.82[AMR][1000 genomes]
rs10808728	0.85[EUR][1000 genomes]
rs12115136	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12335094	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12550400	0.82[AMR][1000 genomes]
rs12679222	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1455574	0.81[EUR][1000 genomes]
rs2353388	0.84[EUR][1000 genomes]
rs2736676	0.85[AMR][1000 genomes]
rs4279586	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4352845	0.84[EUR][1000 genomes]
rs4397399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4400383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4413770	0.84[EUR][1000 genomes]
rs4446729	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[MEX][hapmap];0.85[AMR][1000 genomes]
rs4449783	0.80[AMR][1000 genomes]
rs4573267	0.83[AMR][1000 genomes]
rs4592024	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4739049	0.82[AMR][1000 genomes]
rs5007413	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6472066	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6998134	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6998383	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6999604	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7000012	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7003413	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.91[MEX][hapmap];0.82[AMR][1000 genomes]
rs7010484	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7387326	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7388305	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs7818905	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7839216	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7839874	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][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	nsv1018879	chr8:63281724-63937632	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1033527	chr8:63673915-64073735	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv6227	chr8:63892087-63936952	Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4377959	CLVS1	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63896400-63901000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr8:63896600-63900600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:63897800-63899800	Weak transcription	Esophagus	oesophagus
4	chr8:63898600-63899200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:63898600-63899200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:63898600-63899200	Enhancers	Fetal Stomach	stomach

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