Variant report

Variant	rs56238040
Chromosome Location	chr1:193320650-193320651
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs16835301	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56056062	0.86[AFR][1000 genomes]
rs57648443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57963089	1.00[AMR][1000 genomes]
rs60899083	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61090037	1.00[AMR][1000 genomes]
rs6428164	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6659189	0.82[AFR][1000 genomes]
rs6662220	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6681856	1.00[AMR][1000 genomes]
rs6701516	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130949	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130951	1.00[AMR][1000 genomes]
rs74130952	1.00[AMR][1000 genomes]
rs74130953	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130956	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130958	1.00[AMR][1000 genomes]
rs74130959	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130965	1.00[AMR][1000 genomes]
rs74130966	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130967	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130968	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130969	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130970	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130971	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130972	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7534326	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7538857	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7541789	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7542274	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7542285	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7542739	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	nsv872831	chr1:193152317-193322087	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1001174	chr1:193186758-193363372	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv997891	chr1:193271839-193566441	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193311000-193324000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr1:193316400-193323400	Weak transcription	Stomach Mucosa	stomach
3	chr1:193317800-193324800	Weak transcription	Psoas Muscle	Psoas
4	chr1:193318600-193323800	Weak transcription	Fetal Intestine Large	intestine
5	chr1:193318600-193325400	Weak transcription	HSMM	muscle
6	chr1:193319800-193320800	Enhancers	Brain Germinal Matrix	brain
7	chr1:193320000-193325400	Weak transcription	HSMMtube	muscle
8	chr1:193320600-193320800	Enhancers	Fetal Brain Male	brain
9	chr1:193320600-193321000	Genic enhancers	Fetal Lung	lung

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