Variant report

Variant	rs56750457
Chromosome Location	chr4:173748554-173748555
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17058962	1.00[EUR][1000 genomes]
rs58238195	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58250917	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58422707	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58487711	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61424387	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6820453	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72998188	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72998193	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73000116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73000131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73000162	1.00[EUR][1000 genomes]
rs73870304	1.00[EUR][1000 genomes]
rs7671315	1.00[EUR][1000 genomes]
rs7683785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv948856	chr4:173388217-173967546	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv949126	chr4:173466221-174051451	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv3327952	chr4:173591786-173805861	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 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	chr4:173746800-173748800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr4:173747200-173748800	Enhancers	Hela-S3	cervix
3	chr4:173747400-173748600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:173747400-173748600	Enhancers	NH-A	brain
5	chr4:173747600-173765600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:173748200-173748600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:173748200-173748600	Enhancers	A549	lung
8	chr4:173748400-173750000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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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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