Variant report

Variant	rs16836597
Chromosome Location	chr1:194238481-194238482
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:194237234..194239650-chr1:194241367..194244055,3	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1487527	1.00[AMR][1000 genomes]
rs16836491	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16836545	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56695737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60277362	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73052905	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73052916	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73052919	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73052931	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73052935	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73052944	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73053002	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73055004	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73055015	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73056909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73056916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73056918	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73056925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73056944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73070728	1.00[AMR][1000 genomes]
rs73070733	1.00[AMR][1000 genomes]
rs73070741	1.00[AMR][1000 genomes]
rs73070750	1.00[AMR][1000 genomes]
rs73070753	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73070757	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73070766	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008266	chr1:193550185-194481053	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv872834	chr1:193889533-194482304	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1001872	chr1:194030479-194288016	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv832181	chr1:194089117-194255615	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1004338	chr1:194143315-194381135	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv872838	chr1:194206338-194412218	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv872839	chr1:194206338-194420305	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv872840	chr1:194221509-194320639	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv872841	chr1:194221509-194329561	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv872842	chr1:194221509-194334907	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv872843	chr1:194221509-194506982	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
12	nsv872844	chr1:194232033-194364661	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr1:194233800-194249600	Weak transcription	Fetal Thymus	thymus
2	chr1:194234600-194250200	Weak transcription	Primary T cells from cord blood	blood
3	chr1:194237800-194238600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr1:194237800-194238600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr1:194237800-194238600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr1:194238200-194238600	Enhancers	HUES64 Cell Line	embryonic stem cell

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