Variant report

Variant	rs12677337
Chromosome Location	chr8:125972472-125972473
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:125573683..125575467-chr8:125971520..125974069,2	MCF-7	breast:
2	chr8:125968439..125970169-chr8:125972216..125975033,2	K562	blood:
3	chr8:125827816..125829478-chr8:125972453..125974394,2	K562	blood:
4	chr8:125971999..125973720-chr8:126007158..126010144,2	MCF-7	breast:
5	chr8:125869362..125871368-chr8:125970512..125973468,2	MCF-7	breast:
6	chr8:125971245..125973271-chr8:125977522..125979049,2	MCF-7	breast:
7	chr8:125731376..125734284-chr8:125972311..125974487,2	MCF-7	breast:
8	chr8:125971312..125972933-chr8:125992703..125994910,2	K562	blood:
9	chr8:125550750..125552695-chr8:125971803..125974787,2	MCF-7	breast:

No data

No data

No data

Variant related genes	Relation type
ENSG00000147684	Chromatin interaction
ENSG00000255491	Chromatin interaction
ENSG00000147687	Chromatin interaction
ENSG00000255080	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1035809	1.00[ASW][hapmap];0.85[JPT][hapmap]
rs12678891	1.00[ASW][hapmap];0.85[JPT][hapmap]
rs13272814	0.85[JPT][hapmap]
rs16900152	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1834716	1.00[CEU][hapmap];0.84[TSI][hapmap];0.88[EUR][1000 genomes]
rs56364633	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7843302	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1020502	chr8:125868684-125972572	Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12677337	NSMCE2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125969000-125974000	Weak transcription	Fetal Intestine Large	intestine
2	chr8:125969800-125974000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr8:125969800-125985000	Weak transcription	Right Atrium	heart
4	chr8:125970000-125973600	Weak transcription	K562	blood
5	chr8:125970600-125974600	Enhancers	Liver	Liver

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

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