Variant report

Variant	rs60973422
Chromosome Location	chr1:215606776-215606777
allele	C/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]
rs61388332	1.00[AFR][1000 genomes]
rs61600848	0.90[AFR][1000 genomes]
rs6540898	1.00[AFR][1000 genomes]
rs73092000	0.90[AFR][1000 genomes]
rs73094106	0.90[AFR][1000 genomes]
rs73094111	0.90[AFR][1000 genomes]
rs73094115	0.90[AFR][1000 genomes]
rs73094123	0.90[AFR][1000 genomes]
rs73098198	1.00[AFR][1000 genomes]
rs73098201	1.00[AFR][1000 genomes]
rs73100121	1.00[AFR][1000 genomes]
rs7536789	1.00[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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215606000-215606800	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr1:215606000-215607000	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr1:215606200-215606800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr1:215606400-215607000	Enhancers	H1 Cell Line	embryonic stem cell
5	chr1:215606400-215607000	Enhancers	H9 Cell Line	embryonic stem cell
6	chr1:215606400-215607000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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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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