Variant report

Variant	rs481763
Chromosome Location	chr4:75001942-75001943
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs476893	1.00[AMR][1000 genomes]
rs477628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs480956	1.00[AMR][1000 genomes]
rs486172	1.00[AMR][1000 genomes]
rs487335	1.00[AMR][1000 genomes]
rs490645	1.00[AMR][1000 genomes]
rs493135	1.00[AMR][1000 genomes]
rs493800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs495740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs513726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs514044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs515780	1.00[AMR][1000 genomes]
rs516508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs530096	1.00[AMR][1000 genomes]
rs531683	1.00[AMR][1000 genomes]
rs546429	0.86[AFR][1000 genomes]
rs557131	1.00[AMR][1000 genomes]
rs567157	1.00[AMR][1000 genomes]
rs568187	1.00[AMR][1000 genomes]
rs577889	1.00[AMR][1000 genomes]
rs579228	1.00[AMR][1000 genomes]
rs6825147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6840665	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	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1004768	chr4:74774372-75109579	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1006218	chr4:74782324-75105424	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74999200-75002200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:75000000-75007800	Weak transcription	Liver	Liver
3	chr4:75000200-75004400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr4:75000200-75004400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:75000200-75004400	Weak transcription	Aorta	Aorta
6	chr4:75001200-75005000	Weak transcription	NHEK	skin
7	chr4:75001800-75002800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:75001800-75004400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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