Variant report

Variant	rs17083478
Chromosome Location	chr4:54654162-54654163
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10022751	0.90[ASN][1000 genomes]
rs11732262	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11736188	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17083453	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28538396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28671441	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs28678269	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28722947	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4530695	0.90[ASN][1000 genomes]
rs62297725	0.90[ASN][1000 genomes]
rs73159227	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879015	chr4:54596466-54665559	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv879016	chr4:54638218-54710952	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
3	esv19126	chr4:54653249-54709054	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54648600-54655600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:54650600-54654600	Enhancers	NHDF-Ad	bronchial
3	chr4:54651000-54654200	Enhancers	Fetal Stomach	stomach
4	chr4:54651400-54654400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr4:54651400-54654600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:54651800-54654200	Enhancers	Placenta	Placenta
7	chr4:54652400-54654400	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr4:54652600-54654200	Enhancers	Colon Smooth Muscle	Colon
9	chr4:54653200-54655200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr4:54653400-54654400	Weak transcription	Fetal Muscle Leg	muscle
11	chr4:54653400-54654400	Weak transcription	Lung	lung
12	chr4:54653400-54655200	Weak transcription	Fetal Kidney	kidney
13	chr4:54653600-54657400	Weak transcription	Osteobl	bone
14	chr4:54653600-54659000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:54653800-54654200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:54653800-54654200	Weak transcription	HSMMtube	muscle
17	chr4:54653800-54654200	Weak transcription	NHLF	lung

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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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