Variant report

Variant	rs59813927
Chromosome Location	chr20:25526399-25526400
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11087514	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28565216	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28714346	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35054550	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57273246	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57365695	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57734297	1.00[AMR][1000 genomes]
rs57956383	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58167480	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58476027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59002519	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59124158	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59366271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59444992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59512557	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs59802545	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59846731	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59887855	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59894298	1.00[AMR][1000 genomes]
rs60054780	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60505561	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61170040	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61416782	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7261761	1.00[AMR][1000 genomes]
rs7264886	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7265940	1.00[AMR][1000 genomes]
rs7266057	1.00[AMR][1000 genomes]
rs7272899	1.00[AMR][1000 genomes]
rs8124309	0.83[AMR][1000 genomes]
rs8126155	0.84[AFR][1000 genomes];1.00[AMR][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	nsv1067379	chr20:25355484-25593240	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats 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	24 gene(s)	inside rSNPs	diseases
2	nsv1060591	chr20:25388781-25628750	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv544223	chr20:25388781-25628750	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1067441	chr20:25397566-25615439	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv912828	chr20:25433015-25595175	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1062452	chr20:25438025-25590278	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1066066	chr20:25439367-25588016	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv544224	chr20:25439367-25588016	Genic enhancers ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv912829	chr20:25444242-25595175	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv912830	chr20:25449945-25595175	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv912831	chr20:25449945-25595868	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	nsv994976	chr20:25466406-25593286	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv534623	chr20:25466406-25593296	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	nsv1062765	chr20:25466482-25556751	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	nsv544225	chr20:25466482-25556751	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	esv2762069	chr20:25506582-25619528	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25498200-25532200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr20:25517800-25554600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr20:25518800-25530200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr20:25520000-25532000	Weak transcription	Dnd41	blood
5	chr20:25520200-25529000	Weak transcription	Stomach Mucosa	stomach
6	chr20:25520600-25527400	Weak transcription	Lung	lung
7	chr20:25520600-25528800	Weak transcription	Gastric	stomach
8	chr20:25521000-25530200	Weak transcription	Brain Germinal Matrix	brain
9	chr20:25521200-25529200	Weak transcription	Placenta	Placenta
10	chr20:25521200-25530600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr20:25521400-25529200	Weak transcription	Ovary	ovary
12	chr20:25521400-25530000	Weak transcription	HSMM	muscle
13	chr20:25521400-25532200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr20:25521400-25534200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr20:25521600-25530200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr20:25521600-25565000	Weak transcription	Aorta	Aorta
17	chr20:25522000-25530000	Weak transcription	Colon Smooth Muscle	Colon
18	chr20:25522400-25526400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr20:25522800-25528800	Weak transcription	Spleen	Spleen
20	chr20:25523000-25527400	Weak transcription	Pancreas	Pancrea
21	chr20:25523000-25529000	Weak transcription	Fetal Intestine Large	intestine
22	chr20:25523000-25529000	Weak transcription	Thymus	Thymus
23	chr20:25523000-25529800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr20:25523200-25526400	Weak transcription	Fetal Intestine Small	intestine
25	chr20:25523800-25528200	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr20:25524000-25527200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr20:25524000-25527600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr20:25524000-25529200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr20:25524400-25528600	Weak transcription	Esophagus	oesophagus
30	chr20:25524400-25530000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr20:25524400-25565000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr20:25524600-25529800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr20:25524600-25529800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr20:25524600-25530000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr20:25524600-25530000	Enhancers	A549	lung
36	chr20:25524800-25526400	Enhancers	Fetal Brain Female	brain
37	chr20:25524800-25526600	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr20:25524800-25526600	Enhancers	Fetal Kidney	kidney
39	chr20:25524800-25526600	Enhancers	Rectal Smooth Muscle	rectum
40	chr20:25524800-25527600	Enhancers	H1 Cell Line	embryonic stem cell
41	chr20:25524800-25531600	Enhancers	Fetal Lung	lung
42	chr20:25525000-25526400	Enhancers	Stomach Smooth Muscle	stomach
43	chr20:25525000-25527000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr20:25525000-25527600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr20:25525000-25527800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr20:25525000-25528000	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr20:25525000-25528400	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr20:25525000-25529800	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr20:25525000-25535400	Enhancers	Fetal Heart	heart
50	chr20:25525200-25526600	Enhancers	HepG2	liver

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