Variant report

Variant	rs12956223
Chromosome Location	chr18:44525817-44525818
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12150795	1.00[AMR][1000 genomes]
rs35084651	1.00[AMR][1000 genomes]
rs36010442	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv833639	chr18:44426363-44552719	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv576813	chr18:44481641-44531283	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1057629	chr18:44500259-44539223	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1062444	chr18:44503472-44539223	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv1062682	chr18:44509052-44539223	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv1056744	chr18:44509052-44581752	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv909609	chr18:44513071-44597092	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	esv1818108	chr18:44519357-44549177	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44520000-44526200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr18:44520200-44526200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr18:44520200-44526800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr18:44520400-44526000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr18:44520400-44526200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr18:44520400-44526200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr18:44520400-44526200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr18:44520400-44526400	Weak transcription	Osteobl	bone
9	chr18:44520800-44526400	Weak transcription	NHDF-Ad	bronchial
10	chr18:44520800-44526400	Weak transcription	NHLF	lung
11	chr18:44521000-44526200	Weak transcription	Fetal Muscle Leg	muscle
12	chr18:44521000-44526400	Weak transcription	Psoas Muscle	Psoas
13	chr18:44521000-44526400	Weak transcription	HSMMtube	muscle
14	chr18:44523200-44526400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr18:44524000-44526200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr18:44525400-44526200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr18:44525400-44526600	Enhancers	Gastric	stomach
18	chr18:44525600-44526000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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