Variant report

Variant	rs12510314
Chromosome Location	chr4:87468478-87468479
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11938022	1.00[ASN][1000 genomes]
rs11947245	1.00[ASN][1000 genomes]
rs12499206	1.00[ASN][1000 genomes]
rs12502487	1.00[ASN][1000 genomes]
rs12508156	1.00[ASN][1000 genomes]
rs12509430	1.00[ASN][1000 genomes]
rs4472106	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594786	chr4:87076360-87609320	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv999470	chr4:87165663-87514552	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	nsv537164	chr4:87165663-87514552	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv1012836	chr4:87279206-87643558	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
6	esv2757071	chr4:87417291-87689533	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
7	esv2759264	chr4:87417291-87689533	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87459400-87468600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:87462600-87474000	Weak transcription	Ovary	ovary
3	chr4:87462600-87478000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr4:87465200-87470400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:87465400-87469800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:87465400-87470800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:87465400-87472000	Weak transcription	Brain Anterior Caudate	brain
8	chr4:87465400-87473800	Weak transcription	HMEC	breast
9	chr4:87465600-87470400	Weak transcription	Osteobl	bone
10	chr4:87465800-87470400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:87466200-87478200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr4:87466600-87470000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:87466600-87479400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:87468000-87468800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr4:87468200-87468800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:87468200-87468800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:87468400-87468600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

what's new

Quick links