Variant report

Variant	rs8115505
Chromosome Location	chr20:25107288-25107289
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 99 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs1108810	0.93[ASN][1000 genomes]
rs1108811	0.93[ASN][1000 genomes]
rs11699149	0.89[CHD][hapmap];0.82[JPT][hapmap]
rs11699219	0.82[JPT][hapmap]
rs11699614	0.93[ASN][1000 genomes]
rs12625069	0.93[ASN][1000 genomes]
rs13036626	0.90[CEU][hapmap];0.82[JPT][hapmap];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13039237	0.93[ASN][1000 genomes]
rs13043355	0.93[ASN][1000 genomes]
rs13043906	0.93[ASN][1000 genomes]
rs13045280	0.94[ASN][1000 genomes]
rs13045481	0.84[ASN][1000 genomes]
rs2038182	0.90[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2057042	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2179639	0.92[EUR][1000 genomes]
rs2235770	0.93[ASN][1000 genomes]
rs2892314	0.91[ASN][1000 genomes]
rs34242837	0.92[ASN][1000 genomes]
rs34631700	0.94[ASN][1000 genomes]
rs35910458	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4482560	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4813547	0.86[CHB][hapmap];0.82[CHD][hapmap];0.95[JPT][hapmap]
rs4815374	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4815388	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4815389	0.90[CEU][hapmap];0.83[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap];0.97[TSI][hapmap];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4815392	0.85[EUR][1000 genomes]
rs6037024	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6037025	0.95[ASN][1000 genomes]
rs6037028	0.93[ASN][1000 genomes]
rs6037029	0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6037030	0.94[ASN][1000 genomes]
rs6037031	0.93[ASN][1000 genomes]
rs6037032	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6037033	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6037034	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6037038	0.91[ASN][1000 genomes]
rs6037049	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6050341	0.94[ASN][1000 genomes]
rs6050342	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050345	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6050348	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6050351	0.94[ASN][1000 genomes]
rs6050353	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050359	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050370	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6050372	0.90[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];0.97[TSI][hapmap]
rs6050374	0.89[CHD][hapmap];0.82[JPT][hapmap]
rs6050399	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6050403	0.89[CHD][hapmap];0.86[JPT][hapmap]
rs6050404	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6050406	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6050409	0.88[EUR][1000 genomes]
rs6050410	0.95[EUR][1000 genomes]
rs6050415	0.95[EUR][1000 genomes]
rs6050418	0.90[CEU][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];0.82[JPT][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes]
rs6050419	0.93[EUR][1000 genomes]
rs6107013	0.88[EUR][1000 genomes]
rs6115069	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6132804	0.93[ASN][1000 genomes]
rs6132810	0.93[ASN][1000 genomes]
rs6132816	0.82[JPT][hapmap]
rs6138492	0.87[ASN][1000 genomes]
rs6138493	0.90[ASN][1000 genomes]
rs6138496	0.93[ASN][1000 genomes]
rs6138504	0.93[ASN][1000 genomes]
rs6138506	0.93[ASN][1000 genomes]
rs6138510	0.93[ASN][1000 genomes]
rs6138511	0.93[ASN][1000 genomes]
rs6138515	0.85[JPT][hapmap]
rs6138528	0.82[JPT][hapmap]
rs6138530	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6138532	0.91[CHD][hapmap];0.82[JPT][hapmap]
rs6515614	0.90[CEU][hapmap];0.86[CHD][hapmap];0.97[GIH][hapmap];0.82[JPT][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7261718	0.94[ASN][1000 genomes]
rs7270433	0.94[ASN][1000 genomes]
rs7270464	0.93[ASN][1000 genomes]
rs7272141	0.93[ASN][1000 genomes]
rs8119777	0.92[ASN][1000 genomes]
rs8122274	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs910101	0.93[ASN][1000 genomes]
rs910102	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062140	chr20:24807962-25304054	Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv544219	chr20:24807962-25304054	Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1056345	chr20:24819570-25168159	Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv1055341	chr20:24848416-25302271	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv1063494	chr20:25067286-25468557	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
6	nsv1063016	chr20:25067286-25475629	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
7	nsv1065101	chr20:25068046-25466542	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	nsv544220	chr20:25068046-25466542	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS 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 miRNA target site	53 gene(s)	inside rSNPs	diseases
9	nsv531480	chr20:25070067-25472684	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
10	nsv585746	chr20:25071454-25470056	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
11	nsv1062742	chr20:25071454-25475629	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
12	nsv949389	chr20:25071454-25506582	Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
13	nsv531481	chr20:25080583-25448944	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
14	esv3350346	chr20:25085001-25110746	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv3443177	chr20:25085001-25115261	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv949479	chr20:25096494-25467359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
17	nsv1061109	chr20:25101715-25472685	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
18	nsv544221	chr20:25101715-25472685	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8115505	NINL	cis	cerebellum	SCAN
rs8115505	CST1	cis	cerebellum	SCAN
rs8115505	FAM182B	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25097200-25120000	Weak transcription	Right Atrium	heart
2	chr20:25099400-25110000	Weak transcription	Pancreas	Pancrea
3	chr20:25106600-25107600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr20:25107000-25107600	Enhancers	A549	lung

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