Variant report

Variant	rs28538455
Chromosome Location	chr4:119486817-119486818
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10000445	0.80[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs10004184	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10034150	0.88[AFR][1000 genomes]
rs2728191	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28400410	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28476651	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28499457	0.97[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs28542814	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs28651082	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55845920	0.89[EUR][1000 genomes]
rs56200441	0.89[EUR][1000 genomes]
rs9991742	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1002771	chr4:119125361-119571237	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv1003731	chr4:119138262-119506032	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv3355840	chr4:119296640-119774737	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv830044	chr4:119338702-119493534	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr4:119478800-119487000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr4:119486600-119487000	Enhancers	H9 Cell Line	embryonic stem cell
3	chr4:119486600-119487200	Enhancers	NH-A	brain
4	chr4:119486600-119487400	Enhancers	Osteobl	bone
5	chr4:119486600-119487600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:119486600-119487600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:119486600-119487600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:119486600-119487600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr4:119486600-119487600	Enhancers	GM12878-XiMat	blood
10	chr4:119486600-119487800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr4:119486600-119488000	Enhancers	NHDF-Ad	bronchial
12	chr4:119486800-119487000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:119486800-119487000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:119486800-119487200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr4:119486800-119487200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:119486800-119487600	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr4:119486800-119487800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr4:119486800-119488000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr4:119486800-119489400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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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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