Variant report

Variant	rs2033054
Chromosome Location	chr4:55018617-55018618
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:54967560..54969215-chr4:55017035..55019730,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10011984	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10030288	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10030381	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10033457	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11133307	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11737133	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12504400	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12647538	0.84[ASN][1000 genomes]
rs12649397	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13105534	0.81[ASN][1000 genomes]
rs1425672	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1834432	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2162137	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2278141	0.93[MEX][hapmap]
rs3194383	0.93[MEX][hapmap]
rs35539097	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4099487	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4293842	0.93[MEX][hapmap]
rs4425439	0.84[ASN][1000 genomes]
rs4864499	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6554150	0.93[MEX][hapmap]
rs6554151	0.84[ASN][1000 genomes]
rs6554152	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6554154	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6554155	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs733003	0.87[ASN][1000 genomes]
rs7654284	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7655181	0.85[MEX][hapmap]
rs7660472	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7674120	0.84[ASN][1000 genomes]
rs9312647	0.84[ASN][1000 genomes]
rs9990683	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879018	chr4:54714753-55030375	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1003167	chr4:54732051-55081905	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv537096	chr4:54732051-55081905	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv594203	chr4:54960005-55030375	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv879020	chr4:54986912-55064573	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv523058	chr4:55018617-55045716	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55018400-55020200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr4:55018400-55020400	Enhancers	HMEC	breast
3	chr4:55018400-55020400	Enhancers	NHEK	skin
4	chr4:55018600-55018800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:55018600-55019600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr4:55018600-55019800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:55018600-55019800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr4:55018600-55019800	Enhancers	NH-A	brain
9	chr4:55018600-55019800	Enhancers	NHLF	lung
10	chr4:55018600-55020000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:55018600-55020000	Enhancers	HSMMtube	muscle
12	chr4:55018600-55020200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr4:55018600-55020200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:55018600-55020200	Enhancers	HSMM	muscle
15	chr4:55018600-55020400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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