Variant report

Variant	rs4956419
Chromosome Location	chr4:142806060-142806061
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:142806022..142808595-chr4:142814790..142817770,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10002081	0.91[ASN][1000 genomes]
rs10016348	0.93[ASN][1000 genomes]
rs10033645	0.90[ASN][1000 genomes]
rs1155303	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1155304	0.92[ASN][1000 genomes]
rs1155305	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1155306	0.94[ASN][1000 genomes]
rs12646138	0.93[ASN][1000 genomes]
rs1372884	0.94[ASN][1000 genomes]
rs1389101	0.92[ASN][1000 genomes]
rs1493018	0.90[ASN][1000 genomes]
rs17015014	0.88[ASN][1000 genomes]
rs17015092	0.92[ASN][1000 genomes]
rs17015102	0.92[ASN][1000 genomes]
rs17015106	0.92[ASN][1000 genomes]
rs17015108	0.92[ASN][1000 genomes]
rs17015119	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17516234	0.94[ASN][1000 genomes]
rs1845152	0.90[ASN][1000 genomes]
rs1867170	0.90[ASN][1000 genomes]
rs2035917	0.91[ASN][1000 genomes]
rs2099884	0.92[ASN][1000 genomes]
rs2241912	0.90[ASN][1000 genomes]
rs4593213	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4956306	0.91[ASN][1000 genomes]
rs4956308	0.91[ASN][1000 genomes]
rs4956416	0.93[ASN][1000 genomes]
rs4956417	0.94[ASN][1000 genomes]
rs4956418	0.92[ASN][1000 genomes]
rs56336584	0.92[ASN][1000 genomes]
rs59222913	0.94[ASN][1000 genomes]
rs62329014	0.92[ASN][1000 genomes]
rs62329023	0.92[ASN][1000 genomes]
rs62329024	0.92[ASN][1000 genomes]
rs62329026	0.94[ASN][1000 genomes]
rs6537075	0.92[ASN][1000 genomes]
rs6816324	0.93[ASN][1000 genomes]
rs6817546	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6823281	0.94[ASN][1000 genomes]
rs6833488	0.92[ASN][1000 genomes]
rs6837322	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6847644	0.90[ASN][1000 genomes]
rs6850346	0.91[ASN][1000 genomes]
rs7667456	0.92[ASN][1000 genomes]
rs7676010	0.88[EUR][1000 genomes];0.88[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	nsv1027004	chr4:142487721-143007320	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv830095	chr4:142695078-142884988	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4956419	MMAA	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:142805400-142806400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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