Variant report

Variant	rs2742537
Chromosome Location	chr11:8908389-8908390
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10743093	0.88[CEU][hapmap]
rs10769967	0.88[CEU][hapmap]
rs10769968	0.84[EUR][1000 genomes]
rs10769970	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs10769971	0.82[EUR][1000 genomes]
rs10769973	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs10769979	0.83[CEU][hapmap]
rs10840134	0.87[CEU][hapmap]
rs10840135	0.95[JPT][hapmap]
rs10840136	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10840141	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs10840142	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs10840147	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs10840148	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs11042078	0.83[CEU][hapmap]
rs11042102	0.81[EUR][1000 genomes]
rs11042103	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs11042104	0.95[JPT][hapmap]
rs11042149	0.87[CEU][hapmap];0.82[CHB][hapmap];0.84[YRI][hapmap]
rs11042151	0.83[CEU][hapmap]
rs11042154	0.83[CEU][hapmap]
rs1123936	0.91[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap]
rs11603841	0.91[CEU][hapmap]
rs1368017	0.91[JPT][hapmap]
rs1529641	0.87[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs1560569	0.83[CEU][hapmap]
rs1569408	0.84[EUR][1000 genomes]
rs16906256	0.95[JPT][hapmap]
rs1883098	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1980428	0.91[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.84[YRI][hapmap]
rs1980429	0.92[CEU][hapmap]
rs1988708	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1988709	0.81[EUR][1000 genomes]
rs2012680	0.81[EUR][1000 genomes]
rs2012690	0.80[EUR][1000 genomes]
rs2016942	0.83[CEU][hapmap]
rs2568020	0.81[EUR][1000 genomes]
rs2568031	0.80[JPT][hapmap]
rs2568043	0.88[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs2568045	0.91[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.84[YRI][hapmap]
rs2568054	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2568059	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2568061	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2568062	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2568065	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2568090	0.87[CEU][hapmap];0.81[CHB][hapmap]
rs2653567	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2653570	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs2653593	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2653605	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs2653607	0.82[ASN][1000 genomes]
rs2653613	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2653616	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2742480	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs2742522	0.92[YRI][hapmap]
rs2742536	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2742540	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2742545	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2742550	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2742552	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34842234	0.83[EUR][1000 genomes]
rs4909952	0.84[CEU][hapmap]
rs4910062	0.86[CEU][hapmap];0.81[CHB][hapmap]
rs4910119	0.81[EUR][1000 genomes]
rs4910157	0.88[EUR][1000 genomes]
rs7118463	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7119939	0.84[CEU][hapmap]
rs7123429	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7123861	0.82[EUR][1000 genomes]
rs7479407	0.83[CEU][hapmap]
rs7925728	0.83[CEU][hapmap]
rs7930026	0.84[CEU][hapmap]
rs7937298	0.88[CEU][hapmap]
rs7945705	0.87[CEU][hapmap]

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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs2742537	TMEM9B-AS1	cis	Muscle Skeletal	GTEx
rs2742537	TMEM9B-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs2742537	TMEM9B-AS1	cis	Artery Aorta	GTEx
rs2742537	TMEM9B-AS1	cis	Esophagus Mucosa	GTEx
rs2742537	TMEM9B-AS1	cis	lung	GTEx
rs2742537	TMEM9B-AS1	cis	Thyroid	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8907600-8908400	Enhancers	Skeletal Muscle Male	skeletal muscle
2	chr11:8908000-8908400	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr11:8908000-8908600	Enhancers	Psoas Muscle	Psoas
4	chr11:8908200-8909000	Weak transcription	HSMMtube	muscle
5	chr11:8908200-8909400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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