Variant report

Variant	rs12423010
Chromosome Location	chr12:21681463-21681464
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898896	chr12:21561645-21695584	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv1054220	chr12:21612158-21692103	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1036084	chr12:21631009-21792756	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv557743	chr12:21670410-21688900	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv898897	chr12:21680363-21781141	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21679800-21681600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
2	chr12:21680400-21682200	Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr12:21681200-21681600	Enhancers	Primary B cells from peripheral blood	blood
4	chr12:21681200-21681600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
5	chr12:21681200-21681600	Enhancers	NHLF	lung
6	chr12:21681200-21682000	Weak transcription	Aorta	Aorta
7	chr12:21681200-21682000	Weak transcription	Psoas Muscle	Psoas
8	chr12:21681200-21682600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:21681200-21682800	Enhancers	Colon Smooth Muscle	Colon
10	chr12:21681200-21691400	Weak transcription	Pancreas	Pancrea
11	chr12:21681400-21681600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:21681400-21681600	Bivalent Enhancer	Primary B cells from cord blood	blood
13	chr12:21681400-21681600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:21681400-21681600	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr12:21681400-21681600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
16	chr12:21681400-21681600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:21681400-21681600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr12:21681400-21681600	Active TSS	Fetal Muscle Leg	muscle
19	chr12:21681400-21681600	Active TSS	Stomach Smooth Muscle	stomach
20	chr12:21681400-21681600	Flanking Active TSS	A549	lung
21	chr12:21681400-21681600	Bivalent Enhancer	HUVEC	blood vessel
22	chr12:21681400-21681600	Bivalent Enhancer	Osteobl	bone
23	chr12:21681400-21681800	Enhancers	Brain Angular Gyrus	brain
24	chr12:21681400-21681800	Weak transcription	Left Ventricle	heart
25	chr12:21681400-21682000	Weak transcription	Brain Anterior Caudate	brain
26	chr12:21681400-21682000	Weak transcription	Brain Hippocampus Middle	brain
27	chr12:21681400-21682200	Enhancers	Liver	Liver
28	chr12:21681400-21682400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:21681400-21682400	Enhancers	Adipose Nuclei	Adipose
30	chr12:21681400-21682800	Bivalent Enhancer	Fetal Lung	lung
31	chr12:21681400-21683000	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr12:21681400-21683800	Enhancers	Fetal Heart	heart

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