Variant report

Variant	rs12987566
Chromosome Location	chr2:172152646-172152647
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs11687454	0.83[TSI][hapmap]
rs11691073	0.84[CEU][hapmap]
rs11694321	0.85[CEU][hapmap]
rs12995219	0.90[EUR][1000 genomes]
rs13023973	0.85[CEU][hapmap];0.86[TSI][hapmap]
rs13031794	0.85[CEU][hapmap];0.86[TSI][hapmap]
rs2111459	0.85[CEU][hapmap];0.94[TSI][hapmap]
rs2193454	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap]
rs2884005	0.82[CHB][hapmap]
rs6722670	0.83[TSI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12987566	METTL8	Cis_1M	lymphoblastoid	RTeQTL
rs12987566	PPIG	cis	parietal	SCAN
rs12987566	CDCA7	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172144000-172154200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:172144200-172171200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:172150200-172159000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr2:172150400-172154400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:172150400-172154400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:172150400-172166400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:172150800-172154200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:172151600-172166400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:172151600-172168400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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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