Variant report

Variant	rs7675121
Chromosome Location	chr4:55382943-55382944
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	chr4:55378304..55380874-chr4:55381434..55383240,2	MCF-7	breast:
2	chr4:55382727..55385050-chr4:55388205..55390548,4	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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17084439	0.82[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]
rs28513544	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28548789	1.00[EUR][1000 genomes]
rs28550366	1.00[EUR][1000 genomes]
rs28753670	0.89[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]
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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55378400-55383400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:55381800-55383800	Enhancers	NHEK	skin
3	chr4:55382000-55383200	Enhancers	Brain Hippocampus Middle	brain
4	chr4:55382000-55383200	Enhancers	Brain Substantia Nigra	brain
5	chr4:55382000-55384000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:55382200-55384200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr4:55382400-55383400	Enhancers	HMEC	breast
8	chr4:55382400-55383800	Enhancers	NHDF-Ad	bronchial
9	chr4:55382600-55383000	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr4:55382600-55383000	Enhancers	Right Atrium	heart
11	chr4:55382600-55383200	Enhancers	Ovary	ovary
12	chr4:55382600-55383400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:55382600-55383600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:55382600-55383600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:55382600-55384000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:55382800-55383200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr4:55382800-55383200	Enhancers	Brain Angular Gyrus	brain
18	chr4:55382800-55383400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:55382800-55383600	Enhancers	Brain Anterior Caudate	brain
20	chr4:55382800-55383800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:55382800-55384000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:55382800-55384400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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