Variant report

Variant	rs34888423
Chromosome Location	chr5:119488026-119488027
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10064390	1.00[EUR][1000 genomes]
rs10478443	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11950118	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11954483	0.83[AMR][1000 genomes]
rs11955277	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11956265	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11956707	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13436319	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28390108	1.00[EUR][1000 genomes]
rs28390186	1.00[EUR][1000 genomes]
rs28735653	1.00[EUR][1000 genomes]
rs6896156	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7725970	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7734203	1.00[AMR][1000 genomes]
rs9327124	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023146	chr5:119301891-119623417	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv537883	chr5:119301891-119623417	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv3331559	chr5:119306944-119536554	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv532200	chr5:119317901-120102513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv882780	chr5:119332670-119488924	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv882781	chr5:119369334-119557828	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv599600	chr5:119399177-119507243	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1026457	chr5:119406305-119493661	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv537885	chr5:119406305-119493661	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv432803	chr5:119419101-119659101	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1016024	chr5:119460796-119509057	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
12	nsv1018247	chr5:119469805-119511846	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119486800-119488600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:119487400-119488200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:119487400-119488800	Enhancers	HUVEC	blood vessel
4	chr5:119487400-119489000	Enhancers	HSMM	muscle
5	chr5:119487600-119488200	Flanking Active TSS	NHDF-Ad	bronchial
6	chr5:119487600-119488600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:119487600-119488600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:119487600-119488600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:119487600-119488600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:119487600-119488600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr5:119487600-119488800	Enhancers	HMEC	breast
12	chr5:119487600-119488800	Enhancers	NH-A	brain
13	chr5:119487600-119489000	Enhancers	Hela-S3	cervix
14	chr5:119487800-119488200	Flanking Active TSS	Osteobl	bone
15	chr5:119487800-119488400	Active TSS	NHLF	lung
16	chr5:119488000-119488200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:119488000-119488400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:119488000-119488400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured 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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