Variant report

Variant	rs6121224
Chromosome Location	chr20:29860684-29860685
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10084487	1.00[ASN][1000 genomes]
rs10084488	1.00[ASN][1000 genomes]
rs12329612	1.00[ASN][1000 genomes]
rs1923053	1.00[ASN][1000 genomes]
rs2143192	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424858	1.00[ASN][1000 genomes]
rs55963102	1.00[ASN][1000 genomes]
rs56047717	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57214825	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs58270851	1.00[ASN][1000 genomes]
rs6057566	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6057657	1.00[GIH][hapmap];0.97[TSI][hapmap]
rs6058010	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6059071	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6060436	1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap]
rs6060993	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6061021	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60897953	1.00[ASN][1000 genomes]
rs6118879	1.00[ASN][1000 genomes]
rs6118896	1.00[ASN][1000 genomes]
rs6118901	1.00[ASN][1000 genomes]
rs6118990	1.00[ASN][1000 genomes]
rs6118991	1.00[ASN][1000 genomes]
rs6118993	1.00[ASN][1000 genomes]
rs6118994	1.00[ASN][1000 genomes]
rs6119014	1.00[ASN][1000 genomes]
rs6119018	1.00[ASN][1000 genomes]
rs6119036	1.00[ASN][1000 genomes]
rs6119037	1.00[ASN][1000 genomes]
rs6119038	1.00[ASN][1000 genomes]
rs6119130	1.00[ASN][1000 genomes]
rs6119317	1.00[ASN][1000 genomes]
rs6119383	1.00[ASN][1000 genomes]
rs6119387	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6120065	1.00[ASN][1000 genomes]
rs6120125	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6120294	1.00[ASN][1000 genomes]
rs6120312	1.00[ASN][1000 genomes]
rs6121233	1.00[ASN][1000 genomes]
rs6121244	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs67552179	1.00[ASN][1000 genomes]
rs717064	1.00[ASN][1000 genomes]
rs7274062	1.00[ASN][1000 genomes]
rs73119512	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73232316	1.00[ASN][1000 genomes]
rs73238483	1.00[ASN][1000 genomes]
rs732860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs752841	1.00[ASN][1000 genomes]
rs8117589	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1800744	chr20:29804293-29860684	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv1806005	chr20:29804293-29860684	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv1809844	chr20:29804293-29860684	Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv1821656	chr20:29804293-29860684	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv1829940	chr20:29804293-29860684	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv1836734	chr20:29804293-29860684	ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv1839077	chr20:29804293-29860684	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv1850349	chr20:29804293-29860684	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv869384	chr20:29833386-30605088	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	419 gene(s)	inside rSNPs	diseases
10	nsv833951	chr20:29833448-29878205	Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv458960	chr20:29833609-29912852	Active TSS ZNF genes & repeats Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv585909	chr20:29833609-29912852	Active TSS Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv470546	chr20:29833609-30235302	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised 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 miRNA target site	385 gene(s)	inside rSNPs	diseases
14	nsv1065124	chr20:29833958-29912341	Active TSS ZNF genes & repeats Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv544227	chr20:29833958-29912341	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv1061669	chr20:29833958-29926862	Active TSS ZNF genes & repeats Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv1066609	chr20:29833958-29938132	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
18	nsv544228	chr20:29833958-29938132	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
19	nsv1066779	chr20:29833958-29981427	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
20	nsv544229	chr20:29833958-29981427	Weak transcription ZNF genes & repeats Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
21	nsv1060567	chr20:29833958-29992219	ZNF genes & repeats Weak transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
22	nsv544230	chr20:29833958-29992219	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
23	nsv1059642	chr20:29833958-30024839	Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
24	nsv544231	chr20:29833958-30024839	Active TSS Enhancers ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
25	nsv1055527	chr20:29833958-30078925	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
26	nsv1062069	chr20:29833958-30153486	Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
27	nsv1062612	chr20:29833958-30219337	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	383 gene(s)	inside rSNPs	diseases
28	nsv1061673	chr20:29833958-30649496	Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	422 gene(s)	inside rSNPs	diseases
29	nsv544232	chr20:29833958-30649496	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	422 gene(s)	inside rSNPs	diseases
30	nsv1063413	chr20:29835037-29969913	ZNF genes & repeats Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
31	nsv1065102	chr20:29835037-30011213	ZNF genes & repeats Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
32	nsv1058516	chr20:29835037-30024168	ZNF genes & repeats Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
33	nsv1058344	chr20:29835037-30386611	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	402 gene(s)	inside rSNPs	diseases
34	nsv1059672	chr20:29835037-30621271	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	419 gene(s)	inside rSNPs	diseases
35	esv2763228	chr20:29835049-30239522	Genic enhancers Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription 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 miRNA target site	385 gene(s)	inside rSNPs	diseases
36	nsv949085	chr20:29846303-30473188	Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	414 gene(s)	inside rSNPs	diseases
37	nsv1060247	chr20:29860167-29969913	ZNF genes & repeats Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6121224	DEFB115	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:29859600-29860800	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr20:29860000-29860800	ZNF genes & repeats	Gastric	stomach
3	chr20:29860600-29862000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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