Variant report

Variant	rs1434928
Chromosome Location	chr8:69540612-69540613
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10111308	0.85[ASN][1000 genomes]
rs11780358	0.87[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.91[ASN][1000 genomes]
rs1369225	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1434929	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1583423	0.91[ASN][1000 genomes]
rs2380483	0.87[CEU][hapmap];0.82[CHB][hapmap]
rs4313142	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.93[MKK][hapmap];0.83[TSI][hapmap];0.86[YRI][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4366070	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4993630	0.84[ASN][1000 genomes]
rs920015	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[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	nsv948687	chr8:69041121-69642540	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv890984	chr8:69482825-69556111	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv890985	chr8:69532253-69586034	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1434928	C8orf44	cis	parietal	SCAN
rs1434928	LRRC67	cis	parietal	SCAN
rs1434928	CRH	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69532800-69544800	Weak transcription	Aorta	Aorta
2	chr8:69537000-69541600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr8:69537000-69541600	Enhancers	Muscle Satellite Cultured Cells	--
4	chr8:69537000-69541800	Enhancers	NHDF-Ad	bronchial
5	chr8:69538000-69541000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr8:69538000-69544800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:69538000-69550400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:69539200-69541600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:69539200-69541800	Enhancers	NHLF	lung
10	chr8:69539400-69541200	Enhancers	Osteobl	bone
11	chr8:69539400-69541800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:69539800-69544800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr8:69540000-69541400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:69540400-69541200	Weak transcription	HSMM	muscle
15	chr8:69540400-69541600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:69540600-69541400	Weak transcription	HSMMtube	muscle

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