Variant report

Variant	rs28513544
Chromosome Location	chr4:55379527-55379528
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:55378304..55380874-chr4:55381434..55383240,2	MCF-7	breast:
2	chr4:55367289..55369403-chr4:55377236..55379573,2	MCF-7	breast:
3	chr4:55378848..55381220-chr4:55383036..55384578,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10017829	1.00[EUR][1000 genomes]
rs10018115	1.00[EUR][1000 genomes]
rs10019495	1.00[EUR][1000 genomes]
rs11936787	1.00[EUR][1000 genomes]
rs17084182	1.00[EUR][1000 genomes]
rs17084432	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17084439	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17084451	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1876481	1.00[EUR][1000 genomes]
rs218274	1.00[EUR][1000 genomes]
rs218275	1.00[EUR][1000 genomes]
rs218276	1.00[EUR][1000 genomes]
rs218277	1.00[EUR][1000 genomes]
rs28415087	1.00[EUR][1000 genomes]
rs28548789	1.00[EUR][1000 genomes]
rs28550366	1.00[EUR][1000 genomes]
rs28753670	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35111648	1.00[EUR][1000 genomes]
rs6815523	1.00[EUR][1000 genomes]
rs6841662	1.00[EUR][1000 genomes]
rs6842725	1.00[EUR][1000 genomes]
rs73155490	1.00[EUR][1000 genomes]
rs73157485	1.00[EUR][1000 genomes]
rs73159412	1.00[EUR][1000 genomes]
rs7675121	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs973924	1.00[EUR][1000 genomes]
rs9995779	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008793	chr4:55060925-55535807	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv537098	chr4:55060925-55535807	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv999400	chr4:55143598-55776995	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv997430	chr4:55253397-55529288	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr4:55364600-55379600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:55378000-55380400	Enhancers	NHLF	lung
3	chr4:55378200-55380200	Enhancers	Fetal Muscle Leg	muscle
4	chr4:55378200-55380400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:55378200-55380600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:55378400-55380200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:55378400-55380600	Enhancers	NHDF-Ad	bronchial
8	chr4:55378400-55383400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr4:55378600-55380200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:55378600-55380400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:55378600-55380600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:55378800-55379800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:55378800-55380200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:55378800-55380200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:55378800-55380400	Enhancers	HMEC	breast
16	chr4:55379000-55380000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:55379000-55380200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr4:55379200-55380000	Enhancers	Osteobl	bone
19	chr4:55379200-55380200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr4:55379200-55380200	Enhancers	NH-A	brain
21	chr4:55379200-55380200	Flanking Active TSS	NHEK	skin
22	chr4:55379400-55380000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr4:55379400-55380000	Enhancers	Fetal Stomach	stomach

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