Variant report

Variant	rs12542425
Chromosome Location	chr8:117642345-117642346
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10105966	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10108262	0.81[AFR][1000 genomes]
rs10111411	0.81[AFR][1000 genomes]
rs10156225	0.81[AFR][1000 genomes]
rs10808483	0.81[AFR][1000 genomes]
rs11775890	1.00[LWK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs11779352	1.00[YRI][hapmap]
rs12155774	0.81[AFR][1000 genomes]
rs12547061	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12547079	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs13260809	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs4344109	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs62510182	0.81[AFR][1000 genomes]
rs6469653	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6469659	1.00[LWK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs6995838	1.00[YRI][hapmap]
rs7822969	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	esv2757288	chr8:117623719-117645687	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
3	esv2759638	chr8:117623719-117645687	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
4	nsv1016449	chr8:117630683-117644145	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
5	nsv1024038	chr8:117630683-117645687	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv1020480	chr8:117630683-117652448	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12542425	C14orf45	trans	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117635800-117646200	Weak transcription	Right Atrium	heart
2	chr8:117636400-117670800	Weak transcription	Pancreas	Pancrea
3	chr8:117637400-117656600	Weak transcription	Aorta	Aorta
4	chr8:117638800-117649000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr8:117639200-117643400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:117639800-117643800	Weak transcription	Fetal Muscle Leg	muscle
7	chr8:117640600-117662000	Weak transcription	Fetal Brain Female	brain
8	chr8:117641200-117665600	Weak transcription	Fetal Brain Male	brain
9	chr8:117641400-117642400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr8:117641400-117643200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr8:117641600-117642400	Enhancers	Primary B cells from cord blood	blood
12	chr8:117641600-117642800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr8:117641800-117642400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr8:117642000-117655800	Weak transcription	Lung	lung

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