Variant report

Variant	rs2424464
Chromosome Location	chr20:22745065-22745066
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1761	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2092660	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2143902	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2179856	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2179859	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2404493	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2424461	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2424465	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2424466	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424468	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424469	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424470	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424473	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2424475	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2424476	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4331580	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4516506	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4815144	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6075947	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6075948	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6082814	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6113803	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6113810	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061382	chr20:22706041-22763200	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv544213	chr20:22722740-22791150	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv528221	chr20:22732749-22767280	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22734800-22745200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr20:22737800-22749000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr20:22740800-22746000	Enhancers	Placenta	Placenta
4	chr20:22741600-22745200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr20:22742200-22745800	Enhancers	Placenta Amnion	Placenta Amnion
6	chr20:22742400-22746000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr20:22742400-22746000	Enhancers	Lung	lung
8	chr20:22742800-22745800	Enhancers	Stomach Mucosa	stomach
9	chr20:22743000-22745200	Weak transcription	Spleen	Spleen
10	chr20:22743200-22745400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr20:22743200-22745400	Enhancers	Fetal Heart	heart
12	chr20:22743200-22745800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr20:22743200-22745800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr20:22743200-22746600	Enhancers	Fetal Muscle Leg	muscle
15	chr20:22743200-22751400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr20:22743400-22745600	Enhancers	Right Atrium	heart
17	chr20:22743400-22745800	Enhancers	Esophagus	oesophagus
18	chr20:22743400-22745800	Enhancers	Fetal Muscle Trunk	muscle
19	chr20:22744000-22745400	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr20:22744000-22745800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr20:22744000-22748800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr20:22744400-22745400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr20:22744400-22746000	Enhancers	Left Ventricle	heart
24	chr20:22744400-22746000	Enhancers	Ovary	ovary
25	chr20:22744400-22746000	Enhancers	A549	lung
26	chr20:22744600-22745200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr20:22744600-22745400	Enhancers	Hela-S3	cervix
28	chr20:22744600-22745600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr20:22744600-22745600	Enhancers	HSMMtube	muscle
30	chr20:22744600-22745600	Weak transcription	K562	blood
31	chr20:22744600-22745800	Enhancers	HSMM	muscle
32	chr20:22744600-22746000	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr20:22744600-22746000	Enhancers	HMEC	breast
34	chr20:22744600-22746000	Enhancers	NHEK	skin
35	chr20:22744600-22749000	Weak transcription	NH-A	brain
36	chr20:22744600-22749200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr20:22744800-22746000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr20:22744800-22746000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr20:22744800-22748800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr20:22745000-22745400	Enhancers	Gastric	stomach
41	chr20:22745000-22745800	Enhancers	Right Ventricle	heart

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