Variant report

Variant	rs28621957
Chromosome Location	chr10:52596555-52596556
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10821871	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10821877	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10821905	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs10821907	0.97[ASN][1000 genomes]
rs10994720	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10994856	0.97[ASN][1000 genomes]
rs10994860	0.97[ASN][1000 genomes]
rs11815391	0.87[EUR][1000 genomes]
rs12768968	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35182775	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1035197	chr10:52446582-52622349	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs28621957	ASAH2B	cis	Stomach	GTEx
rs28621957	ASAH2B	cis	lung	GTEx
rs28621957	ASAH2	cis	Thyroid	GTEx
rs28621957	ASAH2B	cis	Esophagus Mucosa	GTEx
rs28621957	ASAH2B	cis	Thyroid	GTEx

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52576800-52597200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr10:52580400-52643200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr10:52585200-52617200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr10:52592800-52598000	Genic enhancers	Liver	Liver
5	chr10:52594200-52599400	Weak transcription	HepG2	liver
6	chr10:52594800-52617200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr10:52595800-52596800	Strong transcription	Fetal Intestine Small	intestine
8	chr10:52596200-52601800	Weak transcription	Fetal Intestine Large	intestine

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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