Variant report

Variant	rs4940166
Chromosome Location	chr18:45511441-45511442
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12956843	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12959824	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4940158	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7237616	0.94[EUR][1000 genomes]
rs7505878	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8086080	0.94[EUR][1000 genomes]
rs8096094	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9956052	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv909616	chr18:45467806-45844500	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv978736	chr18:45504781-45511894	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
3	nsv1066479	chr18:45505569-45554507	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45509200-45513000	Weak transcription	HSMM	muscle
2	chr18:45509200-45514800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr18:45510400-45523600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr18:45510600-45522000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr18:45510800-45515400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr18:45510800-45515600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr18:45511000-45511600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr18:45511000-45511600	Enhancers	Hela-S3	cervix
9	chr18:45511000-45511800	Enhancers	Pancreas	Pancrea
10	chr18:45511000-45513400	Weak transcription	Fetal Brain Male	brain
11	chr18:45511000-45515600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr18:45511200-45511600	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr18:45511200-45514000	Enhancers	Primary B cells from cord blood	blood
14	chr18:45511200-45515600	Weak transcription	HUES6 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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