Variant report

Variant	rs11079763
Chromosome Location	chr17:45288789-45288790
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1102461	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11079762	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1634269	0.96[CEU][hapmap];0.86[CHB][hapmap];0.92[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap]
rs221596	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap]
rs221603	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs221605	0.96[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs221607	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2678693	0.96[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap]
rs4968308	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6504744	0.81[ASN][1000 genomes]
rs858671	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs858675	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs858680	0.81[ASN][1000 genomes]
rs9894365	0.89[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];0.84[LWK][hapmap];0.94[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

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	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11079763	DBF4B	cis	parietal	SCAN
rs11079763	SOST	cis	cerebellum	SCAN
rs11079763	MYL4	cis	multi-tissue	Pritchard
rs11079763	KRT9	cis	parietal	SCAN
rs11079763	TUBG1	cis	cerebellum	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45283000-45289600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr17:45284400-45293400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr17:45286200-45289200	Active TSS	Fetal Heart	heart
4	chr17:45286200-45290800	Active TSS	Right Atrium	heart
5	chr17:45286600-45289800	Weak transcription	GM12878-XiMat	blood
6	chr17:45286600-45296200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr17:45287000-45294200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr17:45288000-45289000	Flanking Active TSS	K562	blood
9	chr17:45288000-45289200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr17:45288000-45290400	Active TSS	Fetal Muscle Trunk	muscle
11	chr17:45288000-45290600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr17:45288200-45288800	Weak transcription	Fetal Stomach	stomach
13	chr17:45288400-45289800	Weak transcription	Placenta	Placenta
14	chr17:45288400-45290400	Weak transcription	Psoas Muscle	Psoas
15	chr17:45288400-45290400	Active TSS	HSMMtube	muscle
16	chr17:45288400-45302000	Weak transcription	HSMM	muscle
17	chr17:45288600-45289200	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
18	chr17:45288600-45296200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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