Variant report

Variant	rs376565048
Chromosome Location	chr12:121163002-121163003
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:121162579-121164122	ECC-1	luminal epithelium:	n/a	n/a
2	KAP1	chr12:121162964-121163852	U2OS	brain:	n/a	n/a
3	POLR2A	chr12:121162269-121163936	Hela-S3	cervix:	n/a	n/a
4	GATA3	chr12:121162964-121163994	A549	lung:	n/a	n/a
5	POLR2A	chr12:121162983-121163965	PFSK-1	brain:	n/a	n/a
6	MXI1	chr12:121162805-121164417	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr12:121162863-121164065	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr12:121162800-121163010	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr12:121162080-121163810	K562	blood:	n/a	n/a
10	MTA3	chr12:121162989-121164054	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:121018631..121020878-chr12:121162530..121164769,2	MCF-7	breast:
2	chr12:121124457..121126009-chr12:121161896..121164295,2	K562	blood:
3	chr12:121136675..121138856-chr12:121162469..121164078,2	K562	blood:
4	chr12:121148319..121151196-chr12:121161623..121163655,2	K562	blood:
5	chr12:121146305..121152610-chr12:121160959..121168394,8	MCF-7	breast:
6	chr12:121124509..121126833-chr12:121162138..121164295,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000256569	TF binding region
ACADS	TF binding region
ENSG00000110917	Chromatin interaction
ENSG00000256364	Chromatin interaction
ENSG00000167272	Chromatin interaction
ENSG00000175970	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv899558	chr12:121161589-121179939	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121150400-121163200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:121151400-121163600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:121158400-121163200	Weak transcription	Psoas Muscle	Psoas
4	chr12:121158400-121163600	Weak transcription	Small Intestine	intestine
5	chr12:121160200-121163600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:121161000-121163200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr12:121161200-121163200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:121161200-121163200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:121161200-121163200	Weak transcription	Esophagus	oesophagus
10	chr12:121161200-121163200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr12:121162600-121163200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:121162600-121163200	Enhancers	Primary T cells fromperipheralblood	blood
13	chr12:121162600-121163200	Enhancers	Primary hematopoietic stem cells	blood
14	chr12:121162600-121163200	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr12:121162600-121163200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr12:121162600-121163200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:121162600-121163200	Enhancers	Fetal Thymus	thymus
18	chr12:121162600-121163200	Enhancers	Lung	lung
19	chr12:121162600-121163400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:121162600-121163400	Flanking Active TSS	Stomach Smooth Muscle	stomach
21	chr12:121162600-121163600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:121162800-121163200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr12:121162800-121163200	Enhancers	Primary B cells from peripheral blood	blood
24	chr12:121162800-121163200	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr12:121162800-121163200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr12:121162800-121163200	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr12:121162800-121163200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr12:121162800-121163200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
29	chr12:121162800-121163200	Enhancers	Liver	Liver
30	chr12:121162800-121163200	Flanking Active TSS	Brain Angular Gyrus	brain
31	chr12:121162800-121163200	Flanking Active TSS	Brain Germinal Matrix	brain
32	chr12:121162800-121163200	Enhancers	Placenta	Placenta
33	chr12:121162800-121163200	Enhancers	Thymus	Thymus
34	chr12:121162800-121163400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:121162800-121163400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:121162800-121163400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr12:121162800-121163400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:121162800-121163400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr12:121162800-121163400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr12:121162800-121163400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr12:121162800-121163400	Flanking Active TSS	HepG2	liver
42	chr12:121162800-121163600	Enhancers	Spleen	Spleen
43	chr12:121162800-121163800	Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr12:121163000-121163200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
45	chr12:121163000-121163200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr12:121163000-121163200	Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr12:121163000-121163200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr12:121163000-121163200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr12:121163000-121163200	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr12:121163000-121163200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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