Variant report

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10043284	1.00[JPT][hapmap]
rs10043302	1.00[JPT][hapmap]
rs10076688	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10479409	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10515374	1.00[JPT][hapmap]
rs12514464	0.86[ASN][1000 genomes]
rs12519552	1.00[JPT][hapmap]
rs12519591	1.00[JPT][hapmap]
rs12520660	1.00[JPT][hapmap]
rs13164192	0.86[ASN][1000 genomes]
rs17160227	1.00[JPT][hapmap]
rs6881619	1.00[JPT][hapmap]
rs6888194	1.00[JPT][hapmap]
rs6894244	0.87[EUR][1000 genomes]
rs6897852	1.00[CEU][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6897870	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6898202	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs755966	1.00[JPT][hapmap]
rs7725794	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7732162	1.00[JPT][hapmap]
rs9986282	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]

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	esv34018	chr5:106720912-107110506	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv830440	chr5:107074116-107278905	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10075132	ASPM	trans	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107078600-107080000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:107079200-107081800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr5:107079200-107082400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr5:107079400-107080200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr5:107079400-107080400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:107079400-107080800	Weak transcription	HSMMtube	muscle
7	chr5:107079400-107081200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr5:107079400-107081600	Enhancers	H1 Cell Line	embryonic stem cell
9	chr5:107079400-107081600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr5:107079600-107080600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:107079600-107081200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:107079600-107081600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr5:107079800-107080000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:107079800-107081000	Weak transcription	H9 Cell Line	embryonic stem cell

Quick Search: