Variant report

Variant	rs6048369
Chromosome Location	chr20:22801698-22801699
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:22800282..22803040-chr20:22808872..22810526,2	K562	blood:
2	chr20:22801106..22803065-chr20:22804637..22807434,2	MCF-7	breast:
3	chr20:22799458..22802194-chr20:22807064..22808705,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs4311117	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6048358	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6048363	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6048367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6082850	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6082862	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6082866	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6106563	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6113817	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6113818	0.97[ASN][1000 genomes]
rs6132547	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912816	chr20:22757960-23062927	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv3334	chr20:22773462-22818362	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22795800-22802400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:22796200-22802000	Weak transcription	Fetal Stomach	stomach
3	chr20:22797200-22802200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr20:22797200-22804400	Weak transcription	HSMMtube	muscle
5	chr20:22799000-22803400	Enhancers	Placenta	Placenta
6	chr20:22800200-22806600	Weak transcription	Ovary	ovary
7	chr20:22800800-22802000	Weak transcription	Esophagus	oesophagus
8	chr20:22800800-22802800	Weak transcription	Spleen	Spleen
9	chr20:22800800-22804000	Weak transcription	HMEC	breast
10	chr20:22801000-22802800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr20:22801400-22802200	Enhancers	NHEK	skin
12	chr20:22801400-22803000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr20:22801400-22803000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr20:22801600-22801800	Enhancers	Fetal Muscle Trunk	muscle
15	chr20:22801600-22801800	Enhancers	Fetal Muscle Leg	muscle
16	chr20:22801600-22801800	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr20:22801600-22802000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr20:22801600-22802200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr20:22801600-22802400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr20:22801600-22802800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr20:22801600-22803000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr20:22801600-22803800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr20:22801600-22810200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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