Variant report

Variant	rs12435911
Chromosome Location	chr14:72874971-72874972
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10134133	0.87[CEU][hapmap];0.90[EUR][1000 genomes]
rs10144932	0.80[CEU][hapmap];0.83[JPT][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11158954	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap]
rs12434786	0.81[TSI][hapmap]
rs2239216	0.81[CEU][hapmap];0.84[CHB][hapmap];0.96[CHD][hapmap];0.94[GIH][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs6574073	0.87[CEU][hapmap];0.84[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6574076	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7151688	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7159300	1.00[ASW][hapmap];0.87[CEU][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];0.93[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8015756	0.83[TSI][hapmap]

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	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs12435911	MLH3	cis	cerebellum	SCAN
rs12435911	C14orf43	cis	cerebellum	SCAN
rs12435911	TMED10	cis	parietal	SCAN
rs12435911	PCNX	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72874200-72875000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr14:72874800-72876200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain

Quick Search:

Input of quick search could be:

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

what's new

Quick links