Variant report

Variant	rs601448
Chromosome Location	chr11:106147104-106147105
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 111 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs10047500	0.94[EUR][1000 genomes]
rs10502066	0.92[EUR][1000 genomes]
rs10502067	0.95[EUR][1000 genomes]
rs10895934	0.89[EUR][1000 genomes]
rs10895937	0.95[EUR][1000 genomes]
rs11226959	0.87[EUR][1000 genomes]
rs11226961	0.89[EUR][1000 genomes]
rs11226969	0.92[EUR][1000 genomes]
rs11226970	0.92[EUR][1000 genomes]
rs11226971	0.92[EUR][1000 genomes]
rs11226972	0.92[EUR][1000 genomes]
rs11226973	0.92[EUR][1000 genomes]
rs11226974	0.89[EUR][1000 genomes]
rs11226975	0.92[EUR][1000 genomes]
rs11226976	0.90[EUR][1000 genomes]
rs11226977	0.95[EUR][1000 genomes]
rs11226978	0.95[EUR][1000 genomes]
rs11226979	0.95[EUR][1000 genomes]
rs11226981	0.95[EUR][1000 genomes]
rs11226990	0.98[EUR][1000 genomes]
rs11227000	0.95[EUR][1000 genomes]
rs11227002	0.95[EUR][1000 genomes]
rs11227006	0.95[EUR][1000 genomes]
rs11227007	0.95[EUR][1000 genomes]
rs1154607	0.92[EUR][1000 genomes]
rs11819920	0.95[EUR][1000 genomes]
rs11819968	0.95[EUR][1000 genomes]
rs11821428	0.95[EUR][1000 genomes]
rs11821642	0.92[EUR][1000 genomes]
rs11823838	0.92[EUR][1000 genomes]
rs11823993	0.92[EUR][1000 genomes]
rs11824707	0.95[EUR][1000 genomes]
rs11825111	0.89[EUR][1000 genomes]
rs11825978	0.92[EUR][1000 genomes]
rs11826475	0.95[EUR][1000 genomes]
rs11826477	0.95[EUR][1000 genomes]
rs11826484	0.95[EUR][1000 genomes]
rs11826487	0.95[EUR][1000 genomes]
rs11826794	0.92[EUR][1000 genomes]
rs11827132	0.92[EUR][1000 genomes]
rs11827762	0.95[EUR][1000 genomes]
rs11828217	0.95[EUR][1000 genomes]
rs11828253	0.95[EUR][1000 genomes]
rs11828435	0.95[EUR][1000 genomes]
rs12271058	0.92[EUR][1000 genomes]
rs12276276	0.89[EUR][1000 genomes]
rs12277443	0.92[EUR][1000 genomes]
rs12277629	0.92[EUR][1000 genomes]
rs12278043	0.87[EUR][1000 genomes]
rs12283457	0.92[EUR][1000 genomes]
rs12283643	0.92[EUR][1000 genomes]
rs12283939	0.98[EUR][1000 genomes]
rs12284680	0.92[EUR][1000 genomes]
rs12285725	0.95[EUR][1000 genomes]
rs12288968	0.95[EUR][1000 genomes]
rs12289014	0.95[EUR][1000 genomes]
rs12289033	0.89[EUR][1000 genomes]
rs12289035	0.89[EUR][1000 genomes]
rs12291850	0.92[EUR][1000 genomes]
rs12294993	0.95[EUR][1000 genomes]
rs12295047	0.95[EUR][1000 genomes]
rs1893173	0.87[EUR][1000 genomes]
rs1944771	0.86[EUR][1000 genomes]
rs1944776	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1955019	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs482942	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs488307	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs493679	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs509930	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs539032	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56033334	0.92[EUR][1000 genomes]
rs56115097	0.92[EUR][1000 genomes]
rs574225	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs588935	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs591957	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs595947	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs599811	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs603807	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs607253	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs608643	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61361634	0.92[EUR][1000 genomes]
rs624296	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs624745	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs629793	0.81[AFR][1000 genomes]
rs630093	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs647383	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs653411	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs659327	0.81[AFR][1000 genomes]
rs661099	0.81[AFR][1000 genomes]
rs666672	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs675005	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7102241	0.92[EUR][1000 genomes]
rs7106458	0.92[EUR][1000 genomes]
rs7106459	0.92[EUR][1000 genomes]
rs7106919	0.95[EUR][1000 genomes]
rs7109903	0.89[EUR][1000 genomes]
rs7111720	0.92[EUR][1000 genomes]
rs7115990	0.95[EUR][1000 genomes]
rs7119670	0.95[EUR][1000 genomes]
rs7120289	0.92[EUR][1000 genomes]
rs7120421	0.89[EUR][1000 genomes]
rs7120578	0.89[EUR][1000 genomes]
rs7121763	0.92[EUR][1000 genomes]
rs7126319	0.92[EUR][1000 genomes]
rs7126900	0.95[EUR][1000 genomes]
rs73547574	0.95[EUR][1000 genomes]
rs7926902	0.86[EUR][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	nsv1048381	chr11:105945117-106561574	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv898358	chr11:105999580-106182251	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv430428	chr11:106005901-106173046	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv2754854	chr11:106092790-106245790	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs601448	AASDHPPT	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:106143000-106147200	Weak transcription	NHDF-Ad	bronchial
2	chr11:106143000-106151800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr11:106145600-106149800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:106146200-106148200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr11:106146600-106147200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr11:106146600-106147600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr11:106146600-106149400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr11:106146800-106147400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr11:106146800-106148400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr11:106146800-106148600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:106147000-106148400	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr11:106147000-106151600	Weak transcription	NH-A	brain

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