Variant report

Variant	rs6048366
Chromosome Location	chr20:22800690-22800691
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1076749	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2207171	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2207173	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6036220	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6036226	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6048370	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6048371	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6048374	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6082851	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs879730	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs879731	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs910287	0.80[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:14 , 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	chr20:22796600-22801600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr20:22797200-22802200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr20:22797200-22804400	Weak transcription	HSMMtube	muscle
6	chr20:22799000-22801600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr20:22799000-22803400	Enhancers	Placenta	Placenta
8	chr20:22800000-22800800	Enhancers	Spleen	Spleen
9	chr20:22800200-22801600	Weak transcription	Fetal Muscle Leg	muscle
10	chr20:22800200-22806600	Weak transcription	Ovary	ovary
11	chr20:22800400-22801000	Enhancers	NHEK	skin
12	chr20:22800400-22801400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr20:22800600-22800800	Enhancers	Esophagus	oesophagus
14	chr20:22800600-22800800	Enhancers	HMEC	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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