Variant report

Variant	rs4818116
Chromosome Location	chr21:41442152-41442153
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12627033	0.84[ASN][1000 genomes]
rs12627061	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1882780	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2837410	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2837413	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2837417	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2837418	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2837419	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2837421	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2837422	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2837423	0.84[EUR][1000 genomes]
rs4818115	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9974743	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9975265	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9978703	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[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	nsv913745	chr21:41423346-41473566	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:41426800-41445800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr21:41427600-41442400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr21:41433000-41446200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr21:41438000-41446400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr21:41438000-41453000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr21:41440000-41445800	Weak transcription	Colon Smooth Muscle	Colon
7	chr21:41440000-41455400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr21:41440400-41449800	Weak transcription	Fetal Brain Female	brain
9	chr21:41441400-41443000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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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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