Variant report

Variant	rs11832678
Chromosome Location	chr12:21915845-21915846
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11829561	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11832687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11835573	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11836581	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16924271	1.00[AMR][1000 genomes]
rs16924282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16924283	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16924288	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16924293	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2032776	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57864918	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59638243	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7295420	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74069114	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74069118	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74069119	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74069120	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74069143	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043936	chr12:21562673-21979030	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv557741	chr12:21578559-22169854	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv469164	chr12:21688900-21966701	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv557744	chr12:21688900-21966701	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv832349	chr12:21749093-21930695	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv1051073	chr12:21910875-22271209	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21904600-21916600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr12:21904600-21918600	Weak transcription	Fetal Stomach	stomach
3	chr12:21905400-21918200	Weak transcription	Colon Smooth Muscle	Colon
4	chr12:21911400-21916400	Weak transcription	Fetal Lung	lung
5	chr12:21913400-21918000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr12:21914400-21918000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:21914600-21918600	Weak transcription	Ovary	ovary
8	chr12:21914600-21925800	Weak transcription	Fetal Kidney	kidney
9	chr12:21914800-21923400	Weak transcription	NHLF	lung
10	chr12:21915000-21916600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:21915000-21918400	Weak transcription	Adipose Nuclei	Adipose
12	chr12:21915000-21918800	Enhancers	Fetal Intestine Large	intestine
13	chr12:21915200-21918800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:21915400-21917000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:21915400-21918800	Enhancers	Fetal Intestine Small	intestine
16	chr12:21915600-21918200	Enhancers	Liver	Liver
17	chr12:21915600-21919000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr12:21915600-21923600	Weak transcription	Fetal Heart	heart
19	chr12:21915800-21916400	Weak transcription	Aorta	Aorta

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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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