Variant report

Variant	rs60988283
Chromosome Location	chr20:14564328-14564329
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1028812	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11699420	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11700265	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1535216	1.00[ASN][1000 genomes]
rs1535217	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17227104	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17227111	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1884702	1.00[ASN][1000 genomes]
rs1884703	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1884704	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2024924	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2024925	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2145003	0.81[ASN][1000 genomes]
rs2145005	1.00[ASN][1000 genomes]
rs2145006	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2208129	1.00[ASN][1000 genomes]
rs2224291	1.00[ASN][1000 genomes]
rs2224294	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2250136	1.00[ASN][1000 genomes]
rs2423812	0.81[ASN][1000 genomes]
rs2423813	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2423815	1.00[ASN][1000 genomes]
rs2423816	1.00[ASN][1000 genomes]
rs2423818	1.00[ASN][1000 genomes]
rs2423821	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2423823	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2423824	1.00[ASN][1000 genomes]
rs2423825	1.00[ASN][1000 genomes]
rs2423831	1.00[ASN][1000 genomes]
rs2423832	0.94[ASN][1000 genomes]
rs2423833	1.00[ASN][1000 genomes]
rs2876381	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41382748	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4814311	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4814312	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4814313	1.00[ASN][1000 genomes]
rs56151328	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56285261	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57367626	0.83[AMR][1000 genomes]
rs6042789	1.00[ASN][1000 genomes]
rs6042798	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042824	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6074759	1.00[ASN][1000 genomes]
rs6074763	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6079490	1.00[ASN][1000 genomes]
rs6079491	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6079492	1.00[ASN][1000 genomes]
rs6079493	1.00[ASN][1000 genomes]
rs6079496	1.00[ASN][1000 genomes]
rs6079500	1.00[ASN][1000 genomes]
rs6079501	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6079502	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6105292	1.00[ASN][1000 genomes]
rs6105297	1.00[ASN][1000 genomes]
rs6105298	0.97[ASN][1000 genomes]
rs6110346	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6110349	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62202888	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62202889	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62202890	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62202898	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62202902	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62202903	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62202905	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62202906	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62202937	0.89[AMR][1000 genomes]
rs62202938	0.89[AMR][1000 genomes]
rs73100656	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs927811	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs964385	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs964386	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9808604	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055499	chr20:14224873-14848061	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1064721	chr20:14384931-14648223	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv833926	chr20:14410153-14572336	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv529577	chr20:14434373-14799157	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1060786	chr20:14486713-14648467	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv544188	chr20:14486713-14648467	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1060985	chr20:14488785-14759939	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1060291	chr20:14498526-14578899	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1057540	chr20:14510033-14598427	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1061504	chr20:14518364-14565721	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1059579	chr20:14518849-14941319	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv1063411	chr20:14524404-14658870	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv585447	chr20:14529657-14573967	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv1055188	chr20:14533457-14686297	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv517905	chr20:14536808-14626845	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv585448	chr20:14536862-14573967	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv585449	chr20:14536862-14588168	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv912692	chr20:14538864-14650357	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
19	nsv1064738	chr20:14542669-14686297	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
20	nsv458875	chr20:14548676-14610289	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
21	nsv585450	chr20:14548676-14610289	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
22	nsv1065590	chr20:14549721-14848061	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
23	nsv527332	chr20:14553745-14573967	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
24	nsv528856	chr20:14553745-14573967	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
25	nsv912693	chr20:14559429-14620954	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
26	esv3512353	chr20:14560028-15087709	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
27	esv3512354	chr20:14560087-15087661	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
28	nsv1055269	chr20:14560892-14646201	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
29	nsv1055559	chr20:14560892-14748546	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
30	esv2763220	chr20:14560904-14595693	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14561400-14569200	Weak transcription	Pancreas	Pancrea
2	chr20:14562400-14564800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr20:14562400-14564800	Enhancers	HMEC	breast
4	chr20:14563400-14564600	Enhancers	HSMM	muscle
5	chr20:14563600-14564400	Enhancers	HSMMtube	muscle
6	chr20:14563600-14564800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr20:14563600-14564800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr20:14563600-14564800	Enhancers	NHEK	skin
9	chr20:14563600-14565000	Enhancers	Hela-S3	cervix
10	chr20:14563800-14564800	Enhancers	A549	lung

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