Variant report

Variant	rs10757317
Chromosome Location	chr9:22372784-22372785
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10113901	0.88[EUR][1000 genomes]
rs10738626	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10757307	0.87[EUR][1000 genomes]
rs10757308	0.88[EUR][1000 genomes]
rs10757315	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10757316	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10757318	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10757319	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10811691	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10811699	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10965326	0.87[EUR][1000 genomes]
rs10965327	0.85[EUR][1000 genomes]
rs10965333	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10965335	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11534173	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11536672	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12237826	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1327055	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1327056	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1327057	0.87[EUR][1000 genomes]
rs1327058	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1327061	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1359741	0.88[EUR][1000 genomes]
rs1359742	0.85[EUR][1000 genomes]
rs2383220	0.83[EUR][1000 genomes]
rs2383223	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3903983	0.88[EUR][1000 genomes]
rs4636286	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6475632	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7038483	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7047631	0.87[EUR][1000 genomes]
rs716579	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7872798	0.87[EUR][1000 genomes]
rs7873035	0.87[EUR][1000 genomes]
rs7873445	0.87[EUR][1000 genomes]
rs9298836	0.80[EUR][1000 genomes]
rs943394	0.87[EUR][1000 genomes]
rs943395	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529609	chr9:21708371-22537069	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv531617	chr9:21985057-22809676	Genic enhancers Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv1029289	chr9:22193167-23023688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1016067	chr9:22210874-22432654	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1015364	chr9:22211364-22416886	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv540086	chr9:22211364-22416886	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1023972	chr9:22246764-22426267	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv540087	chr9:22246764-22426267	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1031822	chr9:22364573-22490686	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10757317	DMRTA1	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:22369400-22373600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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