Variant report

Variant	rs6826975
Chromosome Location	chr4:55768206-55768207
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10003816	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10009476	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10021443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10517339	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1553043	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1553044	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1553045	0.87[AMR][1000 genomes]
rs28512369	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60454749	0.86[AFR][1000 genomes]
rs6554212	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv526344	chr4:55522488-56231119	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv948758	chr4:55748430-55887962	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr4:55764800-55769400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:55767800-55768600	Enhancers	Placenta	Placenta
3	chr4:55767800-55769600	Enhancers	HMEC	breast
4	chr4:55768000-55768400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr4:55768000-55769200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr4:55768000-55769400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:55768000-55769600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:55768000-55769600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:55768000-55770200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr4:55768200-55768600	Enhancers	HSMM	muscle
11	chr4:55768200-55768800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr4:55768200-55769000	Enhancers	Aorta	Aorta
13	chr4:55768200-55769000	Enhancers	NHDF-Ad	bronchial
14	chr4:55768200-55769600	Enhancers	NHEK	skin

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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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