Variant report

Variant	rs11699614
Chromosome Location	chr20:25117677-25117678
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 97 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1108810	0.98[ASN][1000 genomes]
rs1108811	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11698226	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11699149	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11699219	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12625069	0.98[ASN][1000 genomes]
rs13037201	0.91[EUR][1000 genomes]
rs13037374	0.91[EUR][1000 genomes]
rs13039237	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13041051	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13043355	0.98[ASN][1000 genomes]
rs13043906	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13045280	0.99[ASN][1000 genomes]
rs13045481	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2057042	0.93[ASN][1000 genomes]
rs2103715	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2235770	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2892314	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34242837	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34631700	0.99[ASN][1000 genomes]
rs35047430	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35231728	0.91[EUR][1000 genomes]
rs35910458	0.91[ASN][1000 genomes]
rs36115891	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4482560	0.93[ASN][1000 genomes]
rs4815374	0.93[ASN][1000 genomes]
rs6037024	0.91[ASN][1000 genomes]
rs6037025	0.98[ASN][1000 genomes]
rs6037028	0.98[ASN][1000 genomes]
rs6037029	0.98[ASN][1000 genomes]
rs6037030	0.99[ASN][1000 genomes]
rs6037031	0.98[ASN][1000 genomes]
rs6037032	0.93[ASN][1000 genomes]
rs6037033	0.93[ASN][1000 genomes]
rs6037034	0.93[ASN][1000 genomes]
rs6037038	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6037052	0.93[EUR][1000 genomes]
rs6050341	0.99[ASN][1000 genomes]
rs6050342	0.93[ASN][1000 genomes]
rs6050345	0.93[ASN][1000 genomes]
rs6050348	0.93[ASN][1000 genomes]
rs6050351	0.99[ASN][1000 genomes]
rs6050353	0.93[ASN][1000 genomes]
rs6050359	0.93[ASN][1000 genomes]
rs6050370	0.92[ASN][1000 genomes]
rs6050390	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6050397	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6050400	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6050403	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6050408	0.89[EUR][1000 genomes]
rs6050411	0.93[EUR][1000 genomes]
rs6050412	0.93[EUR][1000 genomes]
rs6050413	0.93[EUR][1000 genomes]
rs6050421	0.85[EUR][1000 genomes]
rs6132804	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6132810	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6132812	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6132816	0.93[EUR][1000 genomes]
rs6138492	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6138493	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6138496	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6138504	0.98[ASN][1000 genomes]
rs6138506	0.98[ASN][1000 genomes]
rs6138510	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6138511	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6138519	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6138520	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6138521	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6138528	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6138531	0.93[EUR][1000 genomes]
rs6138532	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6138533	0.95[EUR][1000 genomes]
rs7261718	0.99[ASN][1000 genomes]
rs7270433	0.99[ASN][1000 genomes]
rs7270464	0.98[ASN][1000 genomes]
rs7272141	0.98[ASN][1000 genomes]
rs8115505	0.93[ASN][1000 genomes]
rs8119777	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8122274	0.93[ASN][1000 genomes]
rs910101	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs910102	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	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
15	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
16	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

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25097200-25120000	Weak transcription	Right Atrium	heart
2	chr20:25115000-25117800	Enhancers	Pancreas	Pancrea
3	chr20:25116200-25117800	Enhancers	Brain Hippocampus Middle	brain
4	chr20:25116200-25117800	Enhancers	Fetal Brain Female	brain
5	chr20:25116200-25117800	Enhancers	Stomach Smooth Muscle	stomach
6	chr20:25116400-25117800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr20:25116600-25118000	Enhancers	Brain Cingulate Gyrus	brain
8	chr20:25116600-25118400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr20:25116600-25118400	Enhancers	NHDF-Ad	bronchial
10	chr20:25116600-25118400	Enhancers	NHLF	lung
11	chr20:25116800-25117800	Enhancers	Colon Smooth Muscle	Colon
12	chr20:25116800-25117800	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr20:25116800-25117800	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr20:25116800-25117800	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr20:25116800-25117800	Enhancers	HSMMtube	muscle
16	chr20:25116800-25118000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr20:25116800-25118000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr20:25116800-25118000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr20:25116800-25118200	Enhancers	HSMM	muscle
20	chr20:25116800-25118200	Enhancers	NH-A	brain
21	chr20:25116800-25118400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr20:25116800-25118400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr20:25116800-25118400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr20:25116800-25118400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr20:25116800-25118400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr20:25116800-25118400	Enhancers	HMEC	breast
27	chr20:25116800-25118400	Enhancers	Osteobl	bone
28	chr20:25116800-25118800	Flanking Active TSS	A549	lung
29	chr20:25117000-25118000	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr20:25117000-25119600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr20:25117200-25118000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr20:25117200-25118400	Enhancers	Hela-S3	cervix
33	chr20:25117200-25118800	Weak transcription	Brain Germinal Matrix	brain
34	chr20:25117200-25119600	Weak transcription	Brain Angular Gyrus	brain
35	chr20:25117400-25117800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr20:25117400-25118200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr20:25117400-25118200	Enhancers	NHEK	skin
38	chr20:25117400-25119600	Weak transcription	Brain Substantia Nigra	brain
39	chr20:25117600-25117800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr20:25117600-25117800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr20:25117600-25118200	Enhancers	HUVEC	blood vessel
42	chr20:25117600-25119000	Weak transcription	Fetal Brain Male	brain
43	chr20:25117600-25121600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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