Variant report

Variant	rs17444285
Chromosome Location	chr12:40763652-40763653
allele	G/T
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:11)

rs_ID	r²[population]
rs11564173	0.85[EUR][1000 genomes]
rs17444202	0.98[EUR][1000 genomes]
rs2098965	0.81[EUR][1000 genomes]
rs4113954	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58895938	0.81[EUR][1000 genomes]
rs66737902	0.95[EUR][1000 genomes]
rs73277531	0.85[EUR][1000 genomes]
rs73277533	0.85[EUR][1000 genomes]
rs73277585	0.82[EUR][1000 genomes]
rs73277591	0.81[EUR][1000 genomes]
rs73277595	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044685	chr12:40574460-40771612	Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv832377	chr12:40704881-40855223	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv899032	chr12:40735939-40827479	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv558598	chr12:40742363-40828264	Strong transcription Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv899033	chr12:40758652-41122288	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40640600-40768200	Weak transcription	Pancreas	Pancrea
2	chr12:40687200-40765000	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr12:40726200-40766600	Weak transcription	A549	lung
4	chr12:40726200-40767800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:40732800-40764000	Weak transcription	Colon Smooth Muscle	Colon
6	chr12:40747800-40765000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr12:40747800-40765200	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr12:40754800-40764000	Weak transcription	Esophagus	oesophagus
9	chr12:40754800-40765600	Weak transcription	Aorta	Aorta
10	chr12:40754800-40767600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr12:40758200-40765600	Weak transcription	Adipose Nuclei	Adipose
12	chr12:40759000-40765200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:40759200-40764000	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr12:40760000-40765600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr12:40762000-40764200	Weak transcription	Primary B cells from cord blood	blood
16	chr12:40762400-40765400	Weak transcription	Primary B cells from peripheral blood	blood
17	chr12:40762600-40764400	Weak transcription	Liver	Liver

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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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