Variant report

Variant	rs58567530
Chromosome Location	chr16:48172185-48172186
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs58488427	1.00[AMR][1000 genomes]
rs59029650	1.00[AMR][1000 genomes]
rs59615693	1.00[AMR][1000 genomes]
rs59728440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60460102	1.00[AMR][1000 genomes]
rs61380353	1.00[AMR][1000 genomes]
rs61692943	1.00[AMR][1000 genomes]
rs73540863	0.86[AFR][1000 genomes]
rs73540867	0.90[AFR][1000 genomes]
rs74018244	0.83[AFR][1000 genomes]
rs74018246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74018247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74018248	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059259	chr16:48113396-48304404	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv542916	chr16:48113396-48304404	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48168200-48188800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr16:48169800-48172200	Enhancers	Left Ventricle	heart
3	chr16:48169800-48172600	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr16:48170200-48172200	Enhancers	Pancreas	Pancrea
5	chr16:48170400-48172200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr16:48170600-48172400	Enhancers	HSMMtube	muscle
7	chr16:48171000-48172200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr16:48171600-48172400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr16:48171800-48172600	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr16:48171800-48172800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr16:48172000-48172200	Enhancers	A549	lung
12	chr16:48172000-48172400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr16:48172000-48172400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr16:48172000-48172400	Weak transcription	Fetal Muscle Leg	muscle
15	chr16:48172000-48186600	Weak transcription	Fetal Brain Male	brain

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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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