Variant report

Variant	rs4567483
Chromosome Location	chr11:58555640-58555641
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10896827	0.81[AFR][1000 genomes]
rs11822870	1.00[AMR][1000 genomes]
rs12287295	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6591493	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832168	chr11:58394060-58564651	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1050013	chr11:58394598-59221090	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv948365	chr11:58515163-59156405	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv1048605	chr11:58534660-58672438	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1045858	chr11:58547772-58674568	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1052173	chr11:58553516-58678496	Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv523481	chr11:58553771-58632368	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv525355	chr11:58553771-58632368	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58554000-58555800	Enhancers	NHEK	skin
2	chr11:58554000-58556400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr11:58554000-58556800	Enhancers	HMEC	breast
4	chr11:58554400-58556600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:58554400-58557000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:58554800-58556600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:58554800-58557200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr11:58555400-58555800	Enhancers	Liver	Liver
9	chr11:58555400-58556000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:58555400-58556000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:58555400-58556000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr11:58555400-58556000	Enhancers	HepG2	liver
13	chr11:58555400-58556000	Enhancers	NHDF-Ad	bronchial
14	chr11:58555400-58556400	Enhancers	K562	blood
15	chr11:58555400-58559000	Enhancers	Fetal Intestine Large	intestine
16	chr11:58555600-58556000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:58555600-58556000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:58555600-58556000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:58555600-58556000	Enhancers	Adipose Nuclei	Adipose

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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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