Variant report

Variant	rs10445485
Chromosome Location	chr18:45464283-45464284
allele	C/T
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]
rs10502890	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs11082641	0.82[AMR][1000 genomes]
rs12457664	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12458238	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12968493	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12969725	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1573362	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs1787198	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1787199	0.85[AFR][1000 genomes]
rs1792667	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1792668	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1792674	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1792687	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1942158	0.85[AFR][1000 genomes]
rs4940102	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57620563	0.87[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs948602	0.85[AMR][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	nsv909614	chr18:45419421-45478490	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv909615	chr18:45452321-45493026	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10445485	SMAD2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45459000-45464800	Weak transcription	Pancreas	Pancrea
2	chr18:45459600-45471600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr18:45459800-45464600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr18:45462200-45465000	Enhancers	Primary hematopoietic stem cells	blood
5	chr18:45462200-45465200	Enhancers	Fetal Thymus	thymus
6	chr18:45462600-45465000	Enhancers	Thymus	Thymus
7	chr18:45463000-45465200	Weak transcription	Right Atrium	heart
8	chr18:45463200-45465200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr18:45463400-45465200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr18:45463600-45465000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr18:45463800-45465000	Flanking Active TSS	Dnd41	blood
12	chr18:45463800-45468400	Weak transcription	Hela-S3	cervix
13	chr18:45464000-45465000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr18:45464000-45465200	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr18:45464200-45465000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr18:45464200-45465200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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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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