Variant report

Variant	rs6137748
Chromosome Location	chr20:22741326-22741327
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2424462	0.90[ASN][1000 genomes]
rs2424463	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2424467	0.90[ASN][1000 genomes]
rs2424471	0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2424472	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2424474	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4815142	0.90[ASN][1000 genomes]
rs6082809	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6113805	0.90[ASN][1000 genomes]
rs932466	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[ASN][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:28 , 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	chr20:22736600-22741400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr20:22737800-22749000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr20:22738600-22743000	Weak transcription	A549	lung
5	chr20:22739000-22742800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr20:22739400-22741400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr20:22739400-22741400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr20:22739400-22741400	Weak transcription	HSMMtube	muscle
9	chr20:22739400-22743200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr20:22739400-22743200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr20:22739600-22742400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr20:22739600-22742400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr20:22739600-22743200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr20:22739600-22743200	Weak transcription	Fetal Muscle Leg	muscle
15	chr20:22739600-22743400	Weak transcription	Aorta	Aorta
16	chr20:22739600-22743600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr20:22740000-22744600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr20:22740600-22742200	Weak transcription	HMEC	breast
19	chr20:22740600-22742600	Weak transcription	HSMM	muscle
20	chr20:22740800-22746000	Enhancers	Placenta	Placenta
21	chr20:22741200-22741400	Enhancers	Fetal Muscle Trunk	muscle
22	chr20:22741200-22741400	Enhancers	Lung	lung
23	chr20:22741200-22741400	Enhancers	Spleen	Spleen
24	chr20:22741200-22741600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr20:22741200-22741600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr20:22741200-22741600	Enhancers	Esophagus	oesophagus
27	chr20:22741200-22742600	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr20:22741200-22743400	Weak transcription	Right Atrium	heart

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