Variant report

Variant	rs73092000
Chromosome Location	chr1:215579018-215579019
allele	A/T
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:12)

rs_ID	r²[population]
rs60973422	0.90[AFR][1000 genomes]
rs61388332	0.90[AFR][1000 genomes]
rs61600848	1.00[AFR][1000 genomes]
rs6540898	0.90[AFR][1000 genomes]
rs73094106	1.00[AFR][1000 genomes]
rs73094111	1.00[AFR][1000 genomes]
rs73094115	1.00[AFR][1000 genomes]
rs73094123	1.00[AFR][1000 genomes]
rs73098198	0.90[AFR][1000 genomes]
rs73098201	0.90[AFR][1000 genomes]
rs73100121	0.90[AFR][1000 genomes]
rs7536789	0.90[AFR][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	nsv832537	chr1:215509026-215705105	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv1796390	chr1:215561548-215799074	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1014266	chr1:215573051-215730838	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215575600-215580600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr1:215578000-215588000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:215578200-215579200	Enhancers	HUVEC	blood vessel
4	chr1:215578200-215579400	Enhancers	HSMM	muscle
5	chr1:215578400-215589800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:215579000-215580800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr1:215579000-215581400	Weak transcription	NHDF-Ad	bronchial

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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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