Variant report

Variant	rs34920916
Chromosome Location	chr20:13657460-13657461
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11698396	0.84[CHB][hapmap]
rs1973948	0.86[CHB][hapmap]
rs2295505	0.85[EUR][1000 genomes]
rs2295506	0.81[CEU][hapmap];0.83[JPT][hapmap];0.84[EUR][1000 genomes]
rs6033772	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs6033777	0.82[EUR][1000 genomes]
rs6033778	0.85[EUR][1000 genomes]
rs6033779	0.81[CEU][hapmap];0.83[JPT][hapmap];0.84[EUR][1000 genomes]
rs6042256	0.81[CEU][hapmap];0.83[JPT][hapmap];0.85[EUR][1000 genomes]
rs6042261	0.81[CEU][hapmap];0.83[JPT][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes]
rs6042262	0.83[JPT][hapmap];0.83[EUR][1000 genomes]
rs6042269	0.80[CEU][hapmap];0.83[JPT][hapmap];0.86[EUR][1000 genomes]
rs6042306	0.82[ASN][1000 genomes]
rs6105142	0.80[EUR][1000 genomes]
rs6131494	0.89[EUR][1000 genomes]
rs6131495	0.86[EUR][1000 genomes]
rs6134885	0.85[CHB][hapmap]
rs6134892	0.81[MEX][hapmap];0.86[MKK][hapmap]
rs6134907	0.81[MEX][hapmap];0.86[MKK][hapmap]
rs6134928	0.87[CEU][hapmap];0.86[CHB][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.83[EUR][1000 genomes]
rs6134931	0.83[EUR][1000 genomes]
rs6134937	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs6134938	0.87[CEU][hapmap];0.87[JPT][hapmap];0.85[EUR][1000 genomes]
rs6134941	0.87[CEU][hapmap];0.86[CHB][hapmap];0.89[EUR][1000 genomes]
rs6134957	0.83[ASN][1000 genomes]
rs6514424	0.81[CEU][hapmap];0.83[JPT][hapmap];0.83[TSI][hapmap];0.85[EUR][1000 genomes]
rs7265910	0.88[ASN][1000 genomes]
rs7272156	0.89[EUR][1000 genomes]
rs7273818	0.87[CEU][hapmap];0.86[CHB][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.89[EUR][1000 genomes]
rs73090125	0.87[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	nsv1061303	chr20:13395546-13810990	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv916202	chr20:13421724-14043615	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1059817	chr20:13422602-13807968	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1066810	chr20:13451869-14432454	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1061323	chr20:13551004-13746346	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv912689	chr20:13570331-14155881	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv531478	chr20:13580524-13814797	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1059221	chr20:13589432-13977327	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv531479	chr20:13632491-14434432	Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs34920916	ISM1	cis	lung	GTEx
rs34920916	TASP1	cis	lung	GTEx
rs34920916	TASP1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13653000-13659000	Weak transcription	Thymus	Thymus
2	chr20:13656800-13657600	Enhancers	Dnd41	blood
3	chr20:13656800-13658800	Enhancers	Fetal Stomach	stomach
4	chr20:13657000-13661200	Enhancers	Fetal Lung	lung
5	chr20:13657400-13658200	Enhancers	Fetal Muscle Leg	muscle

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