Variant report

Variant	rs2292894
Chromosome Location	chr12:51640986-51640987
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:51639097..51641707-chr12:51654193..51657011,2	K562	blood:
2	chr12:51636660..51641391-chr12:51662083..51664284,5	MCF-7	breast:
3	chr12:51639155..51642440-chr12:51654128..51658049,5	MCF-7	breast:
4	chr12:51440029..51443353-chr12:51638009..51641957,3	MCF-7	breast:
5	chr12:51640501..51643365-chr12:51664040..51666792,2	K562	blood:
6	chr12:51618045..51620517-chr12:51639650..51641374,2	K562	blood:
7	chr12:51494199..51498284-chr12:51638570..51642133,3	K562	blood:
8	chr12:51476770..51479702-chr12:51639185..51641860,4	K562	blood:
9	chr12:51475911..51479702-chr12:51634794..51641655,10	K562	blood:
10	chr12:51640213..51641815-chr12:51650624..51652609,2	K562	blood:
11	chr12:51608943..51615058-chr12:51635250..51642835,14	K562	blood:
12	chr12:51416351..51420123-chr12:51638959..51641750,3	MCF-7	breast:
13	chr12:51441033..51441729-chr12:51640254..51641009,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000184271	Chromatin interaction
ENSG00000110925	Chromatin interaction
ENSG00000269339	Chromatin interaction
ENSG00000050426	Chromatin interaction
ENSG00000110911	Chromatin interaction
ENSG00000170545	Chromatin interaction
ENSG00000135457	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
2	esv3324940	chr12:51640852-51648054	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51634000-51641200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:51634800-51641000	Strong transcription	Fetal Brain Female	brain
3	chr12:51635200-51647000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:51636200-51642200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:51636200-51643200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr12:51636200-51657000	Weak transcription	Small Intestine	intestine
7	chr12:51636800-51641400	Weak transcription	Colon Smooth Muscle	Colon
8	chr12:51637000-51641600	Weak transcription	Fetal Brain Male	brain
9	chr12:51637200-51641200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:51638400-51641200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:51638400-51641200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr12:51638400-51653000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:51638400-51662800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr12:51639200-51642000	Genic enhancers	Placenta	Placenta
15	chr12:51639200-51642600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr12:51639200-51642800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:51639200-51644600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr12:51639400-51642200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:51639400-51642600	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr12:51639400-51642800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr12:51639400-51642800	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr12:51639600-51641000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:51639600-51641400	Weak transcription	Brain Substantia Nigra	brain
24	chr12:51639600-51641400	Weak transcription	Colonic Mucosa	Colon
25	chr12:51639600-51641400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr12:51639600-51642400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr12:51639600-51642600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:51639800-51641000	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr12:51639800-51641200	Weak transcription	Fetal Intestine Small	intestine
30	chr12:51639800-51641400	Weak transcription	Brain Germinal Matrix	brain
31	chr12:51639800-51641400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr12:51639800-51641800	Enhancers	Fetal Kidney	kidney
33	chr12:51639800-51641800	Genic enhancers	Thymus	Thymus
34	chr12:51639800-51642000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr12:51639800-51642400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr12:51639800-51642400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr12:51639800-51643000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:51639800-51643200	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr12:51639800-51643600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:51639800-51646600	Weak transcription	Aorta	Aorta
41	chr12:51639800-51656800	Weak transcription	HSMMtube	muscle
42	chr12:51639800-51662800	Weak transcription	Fetal Stomach	stomach
43	chr12:51640000-51641000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:51640000-51641400	Weak transcription	Gastric	stomach
45	chr12:51640000-51641400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr12:51640000-51641600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr12:51640000-51641800	Enhancers	Liver	Liver
48	chr12:51640000-51641800	Enhancers	HepG2	liver
49	chr12:51640000-51642200	Enhancers	H1 Cell Line	embryonic stem cell
50	chr12:51640000-51642200	Enhancers	Duodenum Mucosa	Duodenum

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