Variant report

Variant	rs10888999
Chromosome Location	chr1:57098393-57098394
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10888995	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10888996	0.82[EUR][1000 genomes]
rs10888997	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11206880	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11206883	0.82[EUR][1000 genomes]
rs12032377	0.85[ASN][1000 genomes]
rs2404990	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4912214	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7542282	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7551675	0.83[ASN][1000 genomes]
rs7553623	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57092400-57098800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr1:57096000-57098400	Enhancers	Hela-S3	cervix
3	chr1:57098200-57098400	Enhancers	H1 Cell Line	embryonic stem cell
4	chr1:57098200-57098800	Enhancers	H9 Cell Line	embryonic stem cell
5	chr1:57098200-57099000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr1:57098200-57099000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr1:57098200-57099400	Enhancers	HUES48 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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