Variant report

Variant	rs12113287
Chromosome Location	chr7:39320540-39320541
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10224140	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10279204	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11773042	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12670009	0.91[ASN][1000 genomes]
rs13241248	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4288259	0.81[TSI][hapmap]
rs4317479	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4330591	0.88[LWK][hapmap]
rs4339541	0.94[LWK][hapmap]
rs4486096	0.91[LWK][hapmap]
rs7810302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1015572	chr7:39185895-39413053	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv538821	chr7:39185895-39413053	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv887969	chr7:39265429-39391875	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12113287	TBX20	cis	parietal	SCAN
rs12113287	RALA	cis	cerebellum	SCAN
rs12113287	C7orf36	cis	parietal	SCAN

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

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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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