Variant report

Variant	rs945447
Chromosome Location	chr1:221088440-221088441
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10495153	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10495154	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11806418	0.92[EUR][1000 genomes]
rs11809417	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12565509	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12566858	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12567705	0.91[EUR][1000 genomes]
rs12568739	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs17009037	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17009060	0.91[EUR][1000 genomes]
rs17009078	0.92[EUR][1000 genomes]
rs35014198	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3820355	0.83[ASN][1000 genomes]
rs6541166	0.90[ASN][1000 genomes]
rs6678259	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73108353	0.90[ASN][1000 genomes]
rs7418458	0.82[AFR][1000 genomes];0.92[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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221080600-221090200	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:221087000-221089200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:221087200-221089200	Enhancers	Primary hematopoietic stem cells	blood
4	chr1:221087400-221089000	Bivalent Enhancer	HepG2	liver
5	chr1:221087400-221090000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr1:221087600-221088600	Enhancers	Adipose Nuclei	Adipose
7	chr1:221087600-221089400	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr1:221087600-221089600	Enhancers	Liver	Liver
9	chr1:221087800-221088600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:221087800-221088800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr1:221087800-221089000	Enhancers	Spleen	Spleen
12	chr1:221087800-221089200	Enhancers	Fetal Muscle Leg	muscle
13	chr1:221087800-221089800	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr1:221088200-221088600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:221088200-221088600	Bivalent Enhancer	Primary B cells from peripheral blood	blood

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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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