Variant report

Variant	rs58888431
Chromosome Location	chr5:127169733-127169734
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1541647	1.00[AMR][1000 genomes]
rs17164599	1.00[AMR][1000 genomes]
rs17164606	1.00[AMR][1000 genomes]
rs17164609	1.00[AMR][1000 genomes]
rs17164612	1.00[AMR][1000 genomes]
rs17164614	1.00[AMR][1000 genomes]
rs57060539	1.00[AMR][1000 genomes]
rs59036040	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61021904	1.00[AMR][1000 genomes]
rs73347033	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv4992	chr5:127151699-127196349	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv1797587	chr5:127156760-127196066	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv1797538	chr5:127162576-127172905	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv1798552	chr5:127162576-127173217	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv1846743	chr5:127162576-127173217	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 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	chr5:127158000-127169800	Weak transcription	A549	lung
2	chr5:127161200-127169800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:127161200-127170400	Weak transcription	Ovary	ovary
4	chr5:127163600-127170000	Weak transcription	Fetal Kidney	kidney
5	chr5:127166200-127169800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr5:127166400-127169800	Weak transcription	Colon Smooth Muscle	Colon
7	chr5:127169200-127170200	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr5:127169600-127169800	Enhancers	Fetal Intestine Large	intestine
9	chr5:127169600-127170000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:127169600-127170000	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr5:127169600-127170000	Enhancers	Rectal Smooth Muscle	rectum
12	chr5:127169600-127170000	Flanking Active TSS	HSMMtube	muscle
13	chr5:127169600-127170200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:127169600-127170200	Enhancers	NHDF-Ad	bronchial
15	chr5:127169600-127170400	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr5:127169600-127170600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:127169600-127171200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:127169600-127171200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr5:127169600-127171200	Enhancers	HSMM	muscle

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