Variant report

Variant	rs7449295
Chromosome Location	chr5:70746762-70746763
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11743135	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs12153571	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12514732	0.84[ASN][1000 genomes]
rs12516456	1.00[CEU][hapmap];0.82[CHB][hapmap];0.84[TSI][hapmap]
rs12652715	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3748043	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs62361818	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6452722	0.83[ASN][1000 genomes]
rs6453043	0.89[EUR][1000 genomes]
rs6877289	0.83[ASN][1000 genomes]
rs7446049	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7449316	0.89[EUR][1000 genomes];0.82[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	nsv1034703	chr5:70391173-70995695	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv528571	chr5:70679626-70767269	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv882176	chr5:70738250-70860665	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7449295	MCCC2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:70746200-70746800	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr5:70746200-70747200	Bivalent Enhancer	Fetal Brain Male	brain
3	chr5:70746400-70746800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
4	chr5:70746600-70746800	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
5	chr5:70746600-70746800	Flanking Bivalent TSS/Enh	Fetal Brain Female	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