Variant report

Variant	rs4682421
Chromosome Location	chr3:112478591-112478592
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12496168	0.83[AFR][1000 genomes]
rs1488590	0.92[ASN][1000 genomes]
rs16859996	0.92[ASN][1000 genomes]
rs2895405	0.92[ASN][1000 genomes]
rs4682422	0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4682423	0.86[CHB][hapmap];0.82[JPT][hapmap];0.92[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	esv3329419	chr3:112236688-112620544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv432477	chr3:112390310-112603310	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv877343	chr3:112470586-112597706	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4682421	PHLDB2	cis	parietal	SCAN
rs4682421	SLC35A5	cis	parietal	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112468000-112488200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:112471200-112479400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr3:112471200-112479600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr3:112475200-112485600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr3:112475600-112484200	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr3:112476600-112479800	Weak transcription	NHEK	skin
7	chr3:112477600-112484600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr3:112477600-112488000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr3:112477800-112478800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:112478200-112478600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr3:112478200-112478600	Enhancers	NHDF-Ad	bronchial
12	chr3:112478200-112478800	Enhancers	K562	blood
13	chr3:112478200-112479000	Enhancers	Osteobl	bone
14	chr3:112478400-112479000	Enhancers	Foreskin Fibroblast Primary Cells skin01	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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