Variant report

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10129258	0.94[ASN][1000 genomes]
rs10133468	0.97[ASN][1000 genomes]
rs10139524	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10145569	0.90[CHB][hapmap]
rs10149204	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10873245	0.91[ASN][1000 genomes]
rs11158897	0.93[ASN][1000 genomes]
rs11158899	0.98[ASN][1000 genomes]
rs11850277	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12432518	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12433619	1.00[CHB][hapmap];0.94[CHD][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs12433847	0.98[ASN][1000 genomes]
rs12436768	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12884828	0.90[CHB][hapmap]
rs12896453	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2158532	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs3742845	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4899391	0.96[ASN][1000 genomes]
rs6574008	0.89[CHB][hapmap]
rs6574010	0.91[ASN][1000 genomes]
rs8012457	0.93[ASN][1000 genomes]
rs8013728	0.93[ASN][1000 genomes]
rs8023180	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1044090	chr14:71496198-71780026	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv832827	chr14:71676178-71833519	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10136305	EXD2	cis	cerebellum	SCAN
rs10136305	SIPA1L1	cis	parietal	SCAN
rs10136305	KIAA0247	cis	parietal	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71680600-71702600	Weak transcription	Brain Angular Gyrus	brain
2	chr14:71682600-71694800	Weak transcription	Pancreas	Pancrea
3	chr14:71687400-71699000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr14:71689000-71695000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr14:71692000-71695200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr14:71692000-71695200	Weak transcription	Brain Substantia Nigra	brain
7	chr14:71692000-71698600	Weak transcription	K562	blood
8	chr14:71692200-71694800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr14:71694600-71695000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr14:71694600-71695800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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