Variant report

Variant	rs567945039
Chromosome Location	chr12:118628698-118628699
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr12:118628325-118628728	SH-SY5Y	brain:	n/a	n/a
2	REST	chr12:118626275-118628701	H1-neurons	neurons:	n/a	chr12:118626360-118626373 chr12:118626360-118626373

Variant related genes	Relation type
TAOK3	TF binding region

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	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1054703	chr12:118575000-118638613	Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv541611	chr12:118575000-118638613	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1035497	chr12:118599539-118732144	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv541612	chr12:118599539-118732144	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv524938	chr12:118624736-118740675	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv976759	chr12:118628348-118632005	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118617200-118634400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr12:118619200-118638600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr12:118619400-118635200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr12:118619400-118635800	Weak transcription	Gastric	stomach
5	chr12:118619400-118635800	Weak transcription	Spleen	Spleen
6	chr12:118619600-118631000	Weak transcription	Fetal Thymus	thymus
7	chr12:118619600-118632800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr12:118619600-118635800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr12:118620200-118635200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr12:118620200-118636800	Weak transcription	Hela-S3	cervix
11	chr12:118620200-118656400	Weak transcription	HepG2	liver
12	chr12:118621000-118682600	Weak transcription	A549	lung
13	chr12:118621400-118633400	Strong transcription	Primary hematopoietic stem cells	blood
14	chr12:118621400-118635800	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr12:118621800-118629200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:118622400-118643800	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr12:118622400-118643800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:118622400-118646400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:118622600-118642000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr12:118623600-118642600	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr12:118624400-118635400	Weak transcription	Small Intestine	intestine
22	chr12:118624800-118628800	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr12:118625600-118628800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr12:118625600-118628800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr12:118625600-118630400	Strong transcription	Primary B cells from peripheral blood	blood
26	chr12:118625600-118641600	Weak transcription	Stomach Mucosa	stomach
27	chr12:118625800-118628800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:118625800-118628800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:118626000-118628800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr12:118626000-118628800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr12:118626200-118628800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr12:118626200-118628800	Active TSS	Brain Substantia Nigra	brain
33	chr12:118626200-118631400	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr12:118626200-118631400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr12:118626400-118628800	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr12:118626400-118628800	Active TSS	Aorta	Aorta
37	chr12:118626400-118628800	Active TSS	Brain Anterior Caudate	brain
38	chr12:118626400-118628800	Active TSS	Ovary	ovary
39	chr12:118626400-118628800	Active TSS	Stomach Smooth Muscle	stomach
40	chr12:118626400-118628800	Flanking Active TSS	NHDF-Ad	bronchial
41	chr12:118627000-118629000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:118627000-118630400	Weak transcription	GM12878-XiMat	blood
43	chr12:118627000-118634000	Weak transcription	Liver	Liver
44	chr12:118627000-118636400	Weak transcription	K562	blood
45	chr12:118627400-118628800	Active TSS	Fetal Brain Male	brain
46	chr12:118627600-118628800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr12:118627600-118629000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr12:118627800-118628800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr12:118628000-118628800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:118628000-118632600	Weak transcription	Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links