Variant report

Variant	rs543109485
Chromosome Location	chr12:51641537-51641538
allele	C/T
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:51639097..51641707-chr12:51654193..51657011,2	K562	blood:
2	chr12:51639155..51642440-chr12:51654128..51658049,5	MCF-7	breast:
3	chr12:51440029..51443353-chr12:51638009..51641957,3	MCF-7	breast:
4	chr12:51640501..51643365-chr12:51664040..51666792,2	K562	blood:
5	chr12:51494199..51498284-chr12:51638570..51642133,3	K562	blood:
6	chr12:51638552..51640559-chr12:51641323..51644888,4	MCF-7	breast:
7	chr12:51476770..51479702-chr12:51639185..51641860,4	K562	blood:
8	chr12:51475911..51479702-chr12:51634794..51641655,10	K562	blood:
9	chr12:51640213..51641815-chr12:51650624..51652609,2	K562	blood:
10	chr12:51608943..51615058-chr12:51635250..51642835,14	K562	blood:
11	chr12:51640991..51642656-chr12:51660376..51662126,2	K562	blood:
12	chr12:51416351..51420123-chr12:51638959..51641750,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000110911	Chromatin interaction
ENSG00000110925	Chromatin interaction
ENSG00000184271	Chromatin interaction
ENSG00000170545	Chromatin interaction
ENSG00000135457	Chromatin interaction
ENSG00000050426	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:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51635200-51647000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:51636200-51642200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:51636200-51643200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr12:51636200-51657000	Weak transcription	Small Intestine	intestine
5	chr12:51637000-51641600	Weak transcription	Fetal Brain Male	brain
6	chr12:51638400-51653000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:51638400-51662800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:51639200-51642000	Genic enhancers	Placenta	Placenta
9	chr12:51639200-51642600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr12:51639200-51642800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:51639200-51644600	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr12:51639400-51642200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:51639400-51642600	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr12:51639400-51642800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr12:51639400-51642800	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr12:51639600-51642400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr12:51639600-51642600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:51639800-51641800	Enhancers	Fetal Kidney	kidney
19	chr12:51639800-51641800	Genic enhancers	Thymus	Thymus
20	chr12:51639800-51642000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr12:51639800-51642400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr12:51639800-51642400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:51639800-51643000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:51639800-51643200	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr12:51639800-51643600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:51639800-51646600	Weak transcription	Aorta	Aorta
27	chr12:51639800-51656800	Weak transcription	HSMMtube	muscle
28	chr12:51639800-51662800	Weak transcription	Fetal Stomach	stomach
29	chr12:51640000-51641600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr12:51640000-51641800	Enhancers	Liver	Liver
31	chr12:51640000-51641800	Enhancers	HepG2	liver
32	chr12:51640000-51642200	Enhancers	H1 Cell Line	embryonic stem cell
33	chr12:51640000-51642200	Enhancers	Duodenum Mucosa	Duodenum
34	chr12:51640000-51643200	Enhancers	Spleen	Spleen
35	chr12:51640000-51656400	Weak transcription	A549	lung
36	chr12:51640200-51641600	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr12:51640200-51641600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr12:51640200-51641800	Enhancers	Stomach Mucosa	stomach
39	chr12:51640200-51642000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:51640200-51642000	Enhancers	Fetal Thymus	thymus
41	chr12:51640200-51642200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:51640200-51642200	Enhancers	Right Ventricle	heart
43	chr12:51640200-51642400	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr12:51640200-51642600	Enhancers	Primary B cells from peripheral blood	blood
45	chr12:51640200-51643200	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr12:51640200-51656400	Weak transcription	Hela-S3	cervix
47	chr12:51640200-51662800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:51640200-51662800	Weak transcription	Pancreas	Pancrea
49	chr12:51640400-51641600	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr12:51640400-51641800	Enhancers	Fetal Muscle Leg	muscle

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