Variant report

Variant	rs6867053
Chromosome Location	chr5:58365545-58365546
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10043357	0.81[EUR][1000 genomes]
rs10045150	0.81[EUR][1000 genomes]
rs10061553	0.88[YRI][hapmap]
rs12652499	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1498599	0.81[EUR][1000 genomes]
rs1498601	0.81[EUR][1000 genomes]
rs7730070	0.81[EUR][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	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv830312	chr5:58191579-58382226	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv830313	chr5:58273724-58421098	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1032308	chr5:58312468-58371239	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58336200-58375600	Weak transcription	Left Ventricle	heart
2	chr5:58360200-58366000	Enhancers	HSMM	muscle
3	chr5:58360600-58373800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr5:58360800-58367200	Weak transcription	HepG2	liver
5	chr5:58361000-58365800	Enhancers	HSMMtube	muscle
6	chr5:58362200-58366000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr5:58362400-58368200	Weak transcription	Psoas Muscle	Psoas
8	chr5:58364400-58365600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:58364600-58365800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:58364600-58366000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:58364800-58365800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:58364800-58366000	Enhancers	NHDF-Ad	bronchial
13	chr5:58365000-58366000	Enhancers	Colon Smooth Muscle	Colon
14	chr5:58365000-58366000	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr5:58365200-58365600	Enhancers	Brain Substantia Nigra	brain
16	chr5:58365200-58366000	Enhancers	Rectal Smooth Muscle	rectum
17	chr5:58365400-58366600	Enhancers	A549	lung
18	chr5:58365400-58375200	Weak transcription	Hela-S3	cervix

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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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