Variant report

Variant	rs6048371
Chromosome Location	chr20:22804107-22804108
allele	C/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:11)

rs_ID	r²[population]
rs1076749	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2207171	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2207173	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6036220	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6036226	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6048366	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6048370	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6048374	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6082851	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs879730	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs879731	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22797200-22804400	Weak transcription	HSMMtube	muscle
2	chr20:22800200-22806600	Weak transcription	Ovary	ovary
3	chr20:22801600-22810200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr20:22802200-22804200	Enhancers	Fetal Muscle Leg	muscle
5	chr20:22802200-22804400	Enhancers	Fetal Muscle Trunk	muscle
6	chr20:22802200-22804800	Weak transcription	NHEK	skin
7	chr20:22802400-22805800	Weak transcription	A549	lung
8	chr20:22802800-22805000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr20:22802800-22805200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr20:22803000-22804800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr20:22803000-22804800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr20:22803000-22805600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr20:22803200-22805800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr20:22803400-22805000	Weak transcription	Placenta	Placenta
15	chr20:22803600-22804800	Enhancers	NHDF-Ad	bronchial
16	chr20:22803600-22805200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr20:22803800-22805400	Weak transcription	Spleen	Spleen
18	chr20:22804000-22806200	Enhancers	HMEC	breast
19	chr20:22804000-22809000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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