Variant report

Variant	rs12761012
Chromosome Location	chr10:3858051-3858052
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10508267	1.00[CHB][hapmap];0.86[CHD][hapmap];0.88[ASN][1000 genomes]
rs10508268	1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11252113	0.95[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12245875	0.95[CEU][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12248147	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12268277	0.95[CEU][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17249633	1.00[CHB][hapmap];0.80[AMR][1000 genomes]
rs34180227	0.89[EUR][1000 genomes]
rs34414469	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61829733	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61829734	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][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	nsv1043680	chr10:3551191-4038002	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv540450	chr10:3804336-3859639	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv540451	chr10:3804336-3868002	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv540456	chr10:3820854-3868002	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	n/a
5	nsv1045571	chr10:3839308-3874184	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
6	nsv540458	chr10:3839308-3874184	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12761012	PFKP	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:3854400-3859000	Weak transcription	K562	blood
2	chr10:3854400-3861800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr10:3854600-3858800	Enhancers	Dnd41	blood
4	chr10:3854600-3859200	Weak transcription	Left Ventricle	heart
5	chr10:3854600-3862000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr10:3854600-3867800	Weak transcription	NHLF	lung
7	chr10:3856200-3867400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr10:3856400-3858400	Enhancers	Fetal Thymus	thymus
9	chr10:3856600-3862200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr10:3856800-3859200	Weak transcription	HepG2	liver
11	chr10:3856800-3862200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr10:3856800-3862400	Weak transcription	HSMMtube	muscle
13	chr10:3856800-3862400	Weak transcription	Osteobl	bone
14	chr10:3857200-3859000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr10:3857600-3863000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr10:3858000-3858600	Weak transcription	Fetal Heart	heart

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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