Variant report

Variant	rs12494750
Chromosome Location	chr3:158298411-158298412
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10276	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1051109	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10936149	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12185969	0.80[AFR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12488114	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12488447	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12629635	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12630515	0.80[AFR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12633674	0.80[AFR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12637295	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12639329	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16829122	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16829290	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16829314	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16847123	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16847125	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1946557	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2082158	0.80[AFR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2082159	0.80[AFR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2291595	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2363658	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3773712	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4334688	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4459938	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4679831	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4680448	0.80[AFR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4680454	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4680455	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4680456	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6765967	0.80[AFR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6768636	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6801874	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73156423	0.80[AFR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73156425	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73156426	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73156428	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73156437	0.80[AFR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73156439	0.80[AFR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73156451	0.80[AFR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73156455	0.80[AFR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73156465	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73156478	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73156488	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73156489	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73156490	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73156491	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73156492	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73156495	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73156496	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7617983	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7648050	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002378	chr3:157715428-158673414	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv1014381	chr3:158070451-158350118	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1004124	chr3:158146715-158808638	Genic enhancers Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	esv2763312	chr3:158193512-158420588	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv916167	chr3:158240540-158320581	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv877691	chr3:158245883-158359667	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1013242	chr3:158275578-158305894	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1013112	chr3:158280085-158301728	Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1001944	chr3:158280085-158305210	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv999408	chr3:158280085-158316431	Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12494750	RP11-538P18.2	cis	Skin Sun Exposed Lower leg	GTEx
rs12494750	MLF1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:158290400-158324400	Weak transcription	Colon Smooth Muscle	Colon
2	chr3:158292000-158299200	Weak transcription	Left Ventricle	heart
3	chr3:158292000-158315400	Weak transcription	Right Ventricle	heart
4	chr3:158297800-158312000	Weak transcription	Fetal Heart	heart

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