Variant report

Variant	rs17083480
Chromosome Location	chr4:54655046-54655047
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2412493	0.91[ASN][1000 genomes]
rs61516331	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62297727	1.00[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:13 , 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	chr4:54653200-54655200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr4:54653400-54655200	Weak transcription	Fetal Kidney	kidney
4	chr4:54653600-54657400	Weak transcription	Osteobl	bone
5	chr4:54653600-54659000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr4:54654200-54655200	Enhancers	NHLF	lung
7	chr4:54654200-54655800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:54654400-54655800	Weak transcription	Brain Hippocampus Middle	brain
9	chr4:54654400-54656200	Enhancers	Fetal Muscle Leg	muscle
10	chr4:54654400-54659000	Weak transcription	HSMMtube	muscle
11	chr4:54654600-54657200	Weak transcription	NHDF-Ad	bronchial
12	chr4:54655000-54655200	Enhancers	Placenta	Placenta
13	chr4:54655000-54655200	Enhancers	Right Ventricle	heart

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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

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