Variant report

Variant	rs73108905
Chromosome Location	chr1:221838269-221838270
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs56740608	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57715531	1.00[AMR][1000 genomes]
rs57966484	1.00[AMR][1000 genomes]
rs58032434	0.83[AFR][1000 genomes]
rs58909975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73108910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73108925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73108947	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73108957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73115363	1.00[AMR][1000 genomes]
rs73115368	1.00[AMR][1000 genomes]
rs73115373	1.00[AMR][1000 genomes]
rs73115380	1.00[AMR][1000 genomes]
rs73115383	1.00[AMR][1000 genomes]
rs73117537	1.00[AMR][1000 genomes]
rs73117543	1.00[AMR][1000 genomes]
rs73117544	1.00[AMR][1000 genomes]
rs73121116	1.00[AMR][1000 genomes]
rs73121119	1.00[AMR][1000 genomes]
rs73121125	1.00[AMR][1000 genomes]
rs73123136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73123141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73123147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73123162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73123166	1.00[AFR][1000 genomes];1.00[AMR][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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv873200	chr1:221644180-221843191	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr1:221837200-221839200	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr1:221837400-221840400	Weak transcription	HMEC	breast
3	chr1:221837400-221840600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:221837400-221840600	Weak transcription	Stomach Mucosa	stomach
5	chr1:221837400-221840600	Weak transcription	Hela-S3	cervix
6	chr1:221837600-221838800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr1:221837600-221839000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr1:221837800-221838600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr1:221837800-221839000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr1:221837800-221839000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr1:221838000-221840600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:221838200-221838800	Enhancers	HUES6 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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