Variant report

Variant	rs1426912
Chromosome Location	chr8:67261729-67261730
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 16 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1030421	0.92[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.89[TSI][hapmap]
rs1060242	0.96[CEU][hapmap];0.86[CHB][hapmap];0.87[TSI][hapmap]
rs10957372	0.97[GIH][hapmap]
rs1108	1.00[CEU][hapmap];0.89[TSI][hapmap]
rs11785496	0.91[ASN][1000 genomes]
rs13682	0.96[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.86[TSI][hapmap]
rs1426910	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1426913	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2059640	1.00[CEU][hapmap];0.86[CHB][hapmap]
rs2059641	1.00[CEU][hapmap];0.86[CHB][hapmap]
rs2059642	1.00[CEU][hapmap];0.86[CHB][hapmap]
rs2162421	0.87[EUR][1000 genomes]
rs2465985	0.81[GIH][hapmap]
rs2555568	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.91[TSI][hapmap]
rs2555570	0.96[CEU][hapmap];0.86[CHB][hapmap]
rs2555572	1.00[CEU][hapmap];0.86[CHB][hapmap]
rs2555574	0.86[CHB][hapmap]
rs2718990	0.95[GIH][hapmap]
rs2719004	1.00[CEU][hapmap];0.86[CHB][hapmap]
rs2719005	1.00[CEU][hapmap];0.86[CHB][hapmap]
rs2719008	1.00[CEU][hapmap];0.91[CHB][hapmap];0.80[TSI][hapmap]
rs35352031	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs57269222	0.90[ASN][1000 genomes]
rs57564124	0.94[ASN][1000 genomes]
rs6472269	0.87[EUR][1000 genomes]
rs6472270	0.87[EUR][1000 genomes]
rs7003558	0.90[ASN][1000 genomes]
rs7014980	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs7819605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7845448	0.87[EUR][1000 genomes]
rs890516	0.87[EUR][1000 genomes]
rs9693689	0.97[GIH][hapmap]

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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:16)

SNP	Gene	Cis/trans	Tissue	Source
rs1426912	C8orf46	cis	Skin Sun Exposed Lower leg	GTEx
rs1426912	ADHFE1	cis	multi-tissue	Pritchard
rs1426912	SULF1	cis	parietal	SCAN
rs1426912	C8orf46	cis	lung	GTEx
rs1426912	ADHFE1	cis	Thyroid	GTEx
rs1426912	C8orf46	cis	Adipose Subcutaneous	GTEx
rs1426912	C8orf46	cis	Esophagus Muscularis	GTEx
rs1426912	ADHFE1	cis	Skin Sun Exposed Lower leg	GTEx
rs1426912	ADHFE1	cis	Nerve Tibial	GTEx
rs1426912	C8orf46	cis	Nerve Tibial	GTEx
rs1426912	ADHFE1	cis	Muscle Skeletal	GTEx
rs1426912	ADHFE1	cis	Artery Tibial	GTEx
rs1426912	C8orf46	cis	Thyroid	GTEx
rs1426912	C8orf46	cis	Artery Tibial	GTEx
rs1426912	ADHFE1	cis	cerebellum	SCAN
rs1426912	ADHFE1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67252600-67266800	Weak transcription	Psoas Muscle	Psoas
2	chr8:67257200-67264600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:67257400-67264600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:67258600-67261800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr8:67259600-67261800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr8:67259600-67262200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr8:67259800-67261800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr8:67260200-67262000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr8:67260600-67263800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:67260800-67261800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr8:67260800-67261800	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr8:67260800-67262000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr8:67260800-67262000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:67260800-67262400	Enhancers	Placenta	Placenta
15	chr8:67261000-67261800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:67261400-67261800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr8:67261400-67262000	Enhancers	H9 Cell Line	embryonic stem cell
18	chr8:67261400-67264600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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