Variant report

Variant	rs2468348
Chromosome Location	chr12:48895137-48895138
allele	A/G
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	chr12:48895037-48895446	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000258121	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11168573	0.80[ASN][1000 genomes]
rs11168584	0.80[ASN][1000 genomes]
rs11168601	0.84[ASN][1000 genomes]
rs11608260	0.84[ASN][1000 genomes]
rs11612896	0.80[ASN][1000 genomes]
rs11829869	0.84[ASN][1000 genomes]
rs11830262	0.80[ASN][1000 genomes]
rs11832311	0.84[ASN][1000 genomes]
rs11833650	0.80[ASN][1000 genomes]
rs11834979	0.80[ASN][1000 genomes]
rs11836257	0.80[ASN][1000 genomes]
rs11837374	0.80[ASN][1000 genomes]
rs12424940	0.80[ASN][1000 genomes]
rs17123105	0.84[ASN][1000 genomes]
rs17123106	0.84[ASN][1000 genomes]
rs17123108	0.84[ASN][1000 genomes]
rs2068293	0.84[ASN][1000 genomes]
rs2464563	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2464564	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2468349	0.83[ASN][1000 genomes]
rs2468350	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2705133	0.86[AFR][1000 genomes]
rs2705135	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2705160	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2705165	0.80[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2731074	0.80[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2731085	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34400124	0.80[ASN][1000 genomes]
rs4265629	0.84[ASN][1000 genomes]
rs4344535	0.84[ASN][1000 genomes]
rs4500527	0.84[ASN][1000 genomes]
rs4620769	0.84[ASN][1000 genomes]
rs4760713	0.82[ASN][1000 genomes]
rs56796388	0.80[ASN][1000 genomes]
rs72644858	0.80[ASN][1000 genomes]
rs72644859	0.80[ASN][1000 genomes]
rs72644863	0.80[ASN][1000 genomes]
rs72644864	0.80[ASN][1000 genomes]
rs72644865	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427911	chr12:48670336-48979396	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	esv3402619	chr12:48893535-48896233	Inactive region	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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