Variant report

Variant	rs28652714
Chromosome Location	chr4:74773245-74773246
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10000849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10003573	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10007450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10014539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10017601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10024248	1.00[ASN][1000 genomes]
rs10028241	1.00[ASN][1000 genomes]
rs10034225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10470727	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13435411	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs184761	1.00[ASN][1000 genomes]
rs2564595	1.00[ASN][1000 genomes]
rs28378124	1.00[ASN][1000 genomes]
rs28481533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28522863	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28538897	1.00[ASN][1000 genomes]
rs28563821	1.00[ASN][1000 genomes]
rs28589827	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28602974	1.00[ASN][1000 genomes]
rs28634348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28673400	1.00[ASN][1000 genomes]
rs28681485	1.00[ASN][1000 genomes]
rs28711618	1.00[ASN][1000 genomes]
rs28872183	1.00[ASN][1000 genomes]
rs34943257	1.00[ASN][1000 genomes]
rs352017	1.00[ASN][1000 genomes]
rs352022	1.00[ASN][1000 genomes]
rs447672	1.00[ASN][1000 genomes]
rs485912	1.00[ASN][1000 genomes]
rs525317	1.00[ASN][1000 genomes]
rs648318	1.00[ASN][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	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer 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	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv432612	chr4:74723372-74774372	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	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

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74768800-74781600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:74768800-74782200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:74772600-74773600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:74773000-74774000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:74773200-74773800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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