Variant report

Variant	rs1569408
Chromosome Location	chr11:8909732-8909733
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10743093	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10743095	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10769967	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10769968	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10769970	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10769971	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10769973	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10840130	0.80[EUR][1000 genomes]
rs10840134	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10840136	0.82[EUR][1000 genomes]
rs10840141	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10840142	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10840147	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10840148	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11042078	0.80[EUR][1000 genomes]
rs11042079	0.80[EUR][1000 genomes]
rs11042082	0.82[EUR][1000 genomes]
rs11042088	0.82[EUR][1000 genomes]
rs11042102	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11042103	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11042125	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1109305	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11603841	0.82[EUR][1000 genomes]
rs1529641	0.83[EUR][1000 genomes]
rs1560569	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1883098	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1988708	0.95[EUR][1000 genomes]
rs1988709	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2016942	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2568043	0.83[EUR][1000 genomes]
rs2568054	0.95[EUR][1000 genomes]
rs2568059	0.97[EUR][1000 genomes]
rs2568061	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2568062	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2568065	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2568090	0.82[EUR][1000 genomes]
rs2653567	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2653593	0.96[EUR][1000 genomes]
rs2653606	0.82[EUR][1000 genomes]
rs2653607	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2653613	0.82[EUR][1000 genomes]
rs2653616	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2742537	0.84[EUR][1000 genomes]
rs2742540	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2742545	0.82[EUR][1000 genomes]
rs2742550	0.96[EUR][1000 genomes]
rs2742552	0.82[EUR][1000 genomes]
rs34842234	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36192694	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4554887	0.82[EUR][1000 genomes]
rs4909952	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4910062	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4910119	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4910156	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4910157	0.86[ASN][1000 genomes]
rs4910158	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4910200	0.85[EUR][1000 genomes]
rs4929922	0.80[EUR][1000 genomes]
rs61876187	0.82[EUR][1000 genomes]
rs7118463	0.82[EUR][1000 genomes]
rs7119939	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7123429	0.90[EUR][1000 genomes]
rs7123861	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7937298	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7943377	0.81[EUR][1000 genomes]
rs978636	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758256	chr11:8784813-9009573	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2759803	chr11:8784813-9009573	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv435923	chr11:8839325-9000602	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv832062	chr11:8849295-9009472	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1569408	AKIP1	cis	Thyroid	GTEx
rs1569408	TRIM66	cis	Artery Tibial	GTEx
rs1569408	TMEM9B-AS1	cis	Muscle Skeletal	GTEx
rs1569408	TMEM9B-AS1	cis	lung	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8909000-8910000	Enhancers	HSMMtube	muscle
2	chr11:8909400-8909800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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