Variant report

Variant	rs10193597
Chromosome Location	chr2:57033676-57033677
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10185784	0.81[EUR][1000 genomes]
rs10193496	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10199089	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11125660	0.80[AMR][1000 genomes]
rs11684449	0.82[EUR][1000 genomes]
rs11889516	0.80[EUR][1000 genomes]
rs12619277	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13427440	0.84[EUR][1000 genomes]
rs17048412	0.80[AMR][1000 genomes]
rs17048414	0.80[AMR][1000 genomes]
rs17048423	0.80[AMR][1000 genomes]
rs17651589	0.81[EUR][1000 genomes]
rs1996705	0.85[EUR][1000 genomes]
rs2216494	0.80[EUR][1000 genomes]
rs4140686	0.80[EUR][1000 genomes]
rs4544483	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4671296	0.80[EUR][1000 genomes]
rs6719274	0.85[EUR][1000 genomes]
rs6722540	0.81[EUR][1000 genomes]
rs6730195	0.81[EUR][1000 genomes]
rs6735845	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs718999	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7577567	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7587789	0.85[EUR][1000 genomes]
rs918331	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008859	chr2:56767452-57126026	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv535726	chr2:56767452-57126026	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv582059	chr2:56892585-57175087	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv535727	chr2:56895497-57059359	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1007347	chr2:56904928-57100439	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv582060	chr2:56941668-57137622	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1002180	chr2:57019964-57130245	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:57029400-57034400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:57033200-57034400	Enhancers	NHEK	skin
3	chr2:57033400-57033800	Enhancers	Hela-S3	cervix

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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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