Variant report

Variant	rs73002492
Chromosome Location	chr1:76783913-76783914
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1002784	0.82[EUR][1000 genomes]
rs12069012	1.00[ASN][1000 genomes]
rs17627406	0.86[EUR][1000 genomes]
rs4628548	1.00[ASN][1000 genomes]
rs4949709	0.82[EUR][1000 genomes]
rs60213136	0.82[EUR][1000 genomes]
rs73002499	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73002501	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73002502	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73004208	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73004220	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73004223	0.86[EUR][1000 genomes]
rs73004230	0.82[EUR][1000 genomes]
rs9437136	1.00[ASN][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	nsv870621	chr1:76620313-76997071	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv534168	chr1:76718950-77039352	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1006776	chr1:76777323-76899975	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1014231	chr1:76781140-76880630	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76774200-76796400	Weak transcription	Fetal Stomach	stomach
2	chr1:76775400-76796400	Weak transcription	Brain Substantia Nigra	brain
3	chr1:76779800-76784000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr1:76780200-76784000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:76780200-76813800	Weak transcription	Primary B cells from cord blood	blood
6	chr1:76780600-76784000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr1:76780600-76817200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:76782200-76792800	Weak transcription	Fetal Kidney	kidney
9	chr1:76783400-76784200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:76783600-76784600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr1:76783600-76792000	Weak transcription	Fetal Lung	lung
12	chr1:76783600-76802600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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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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