Variant report

Variant	rs6822736
Chromosome Location	chr4:54541846-54541847
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10031525	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1039985	0.92[ASN][1000 genomes]
rs12645402	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1477878	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1477880	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17083272	0.92[ASN][1000 genomes]
rs17083277	0.90[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs1991973	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2086048	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2219742	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3942650	0.83[EUR][1000 genomes]
rs4864809	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6816209	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6818959	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6843799	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6849381	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs750695	0.84[AMR][1000 genomes];0.83[EUR][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	nsv829936	chr4:54367783-54556123	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3449865	chr4:54541828-54543952	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Dementia and core Alzheimer's disease neuropathologic changes	25188341	GWAS catalog

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54537200-54542400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr4:54538200-54542200	Weak transcription	Ovary	ovary
3	chr4:54539000-54542400	Weak transcription	Liver	Liver
4	chr4:54541200-54542400	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr4:54541200-54543000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:54541400-54542000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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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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