Variant report

Variant	rs751393
Chromosome Location	chr18:44983721-44983722
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1036347	0.85[AMR][1000 genomes]
rs1036348	0.88[ASN][1000 genomes]
rs12968905	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16953140	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2000831	0.84[AMR][1000 genomes]
rs2004310	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4986202	0.83[ASN][1000 genomes]
rs4986229	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs748509	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs892576	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs892577	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9961262	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833641	chr18:44815063-45020202	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
2	nsv517425	chr18:44983381-44998024	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44980400-44988800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr18:44981200-44984400	Enhancers	Fetal Intestine Large	intestine
3	chr18:44981200-44984400	Enhancers	Fetal Intestine Small	intestine
4	chr18:44983200-44983800	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr18:44983400-44984400	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr18:44983600-44984200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr18:44983600-44984400	Enhancers	Rectal Mucosa Donor 29	rectum

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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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