Variant report

Variant	rs6701516
Chromosome Location	chr1:193313186-193313187
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs16835301	1.00[AMR][1000 genomes]
rs56238040	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57648443	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57963089	1.00[AMR][1000 genomes]
rs60899083	1.00[AMR][1000 genomes]
rs61090037	1.00[AMR][1000 genomes]
rs6428164	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6662220	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6681856	1.00[AMR][1000 genomes]
rs74130949	1.00[AMR][1000 genomes]
rs74130951	1.00[AMR][1000 genomes]
rs74130952	1.00[AMR][1000 genomes]
rs74130953	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130956	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130958	1.00[AMR][1000 genomes]
rs74130959	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130961	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130962	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130963	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130965	1.00[AMR][1000 genomes]
rs74130966	1.00[AMR][1000 genomes]
rs74130967	1.00[AMR][1000 genomes]
rs74130968	1.00[AMR][1000 genomes]
rs74130969	1.00[AMR][1000 genomes]
rs74130970	1.00[AMR][1000 genomes]
rs74130971	1.00[AMR][1000 genomes]
rs74130972	1.00[AMR][1000 genomes]
rs7534326	1.00[AMR][1000 genomes]
rs7538857	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7541789	1.00[AMR][1000 genomes]
rs7542274	1.00[AMR][1000 genomes]
rs7542285	1.00[AMR][1000 genomes]
rs7542739	0.81[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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193305800-193317200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:193308000-193317400	Weak transcription	HSMM	muscle
3	chr1:193310400-193315400	Weak transcription	Fetal Intestine Large	intestine
4	chr1:193311000-193324000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr1:193311600-193315200	Weak transcription	Stomach Mucosa	stomach
6	chr1:193312200-193317600	Weak transcription	Ovary	ovary

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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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