Variant report

Variant	rs16946926
Chromosome Location	chr12:117130846-117130847
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117129764..117132726-chr12:117134572..117136682,4	MCF-7	breast:
2	chr12:117129402..117130962-chr12:117132498..117134381,2	K562	blood:

Variant related genes	Relation type
ENSG00000257654	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12099899	1.00[MEX][hapmap]
rs12303400	1.00[MEX][hapmap]
rs35829015	1.00[JPT][hapmap]
rs7138184	1.00[MEX][hapmap]
rs7974008	0.81[ASN][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	nsv832523	chr12:117090343-117273810	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer 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	19 gene(s)	inside rSNPs	diseases
2	nsv521649	chr12:117127540-117136787	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117126000-117131400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:117126000-117133000	Weak transcription	Spleen	Spleen
3	chr12:117126200-117131600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:117127600-117134800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr12:117128400-117131000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:117129800-117131400	Weak transcription	Gastric	stomach
7	chr12:117130000-117131200	Enhancers	Fetal Brain Male	brain
8	chr12:117130200-117131200	Bivalent Enhancer	GM12878-XiMat	blood
9	chr12:117130200-117131400	Enhancers	Primary B cells from peripheral blood	blood
10	chr12:117130200-117131600	Enhancers	Primary B cells from cord blood	blood
11	chr12:117130200-117131600	Enhancers	Fetal Heart	heart
12	chr12:117130400-117131400	Bivalent Enhancer	Fetal Intestine Large	intestine
13	chr12:117130400-117132200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:117130600-117131000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:117130600-117131000	Flanking Active TSS	Duodenum Mucosa	Duodenum
16	chr12:117130600-117131200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
17	chr12:117130600-117131200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:117130600-117131200	Enhancers	Primary hematopoietic stem cells	blood
19	chr12:117130600-117131200	Enhancers	Brain Angular Gyrus	brain
20	chr12:117130600-117131200	Bivalent Enhancer	HepG2	liver
21	chr12:117130600-117131400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
22	chr12:117130600-117131600	Bivalent/Poised TSS	Osteobl	bone
23	chr12:117130600-117131800	Flanking Active TSS	Liver	Liver
24	chr12:117130600-117131800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr12:117130600-117132400	Flanking Active TSS	Brain Germinal Matrix	brain
26	chr12:117130800-117131000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
27	chr12:117130800-117131000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
28	chr12:117130800-117131000	Flanking Active TSS	Brain Anterior Caudate	brain
29	chr12:117130800-117131000	Enhancers	Fetal Brain Female	brain
30	chr12:117130800-117131000	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr12:117130800-117131200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:117130800-117131200	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr12:117130800-117131200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
34	chr12:117130800-117131200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:117130800-117131200	Bivalent Enhancer	Adipose Nuclei	Adipose
36	chr12:117130800-117131200	Enhancers	Brain Hippocampus Middle	brain
37	chr12:117130800-117131200	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
38	chr12:117130800-117131200	Enhancers	Fetal Lung	lung
39	chr12:117130800-117131200	Enhancers	Right Atrium	heart
40	chr12:117130800-117131200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
41	chr12:117130800-117131400	Enhancers	Fetal Intestine Small	intestine
42	chr12:117130800-117131800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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