Variant report

Variant	rs12308376
Chromosome Location	chr12:51322058-51322059
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51317278..51319409-chr12:51321054..51323172,2	K562	blood:
2	chr12:51320296..51325528-chr12:51326081..51329757,6	K562	blood:
3	chr12:51320246..51322142-chr12:51323288..51326015,3	K562	blood:

Variant related genes	Relation type
ENSG00000185432	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11832162	1.00[AMR][1000 genomes]
rs11832863	1.00[AMR][1000 genomes]
rs11834061	1.00[AMR][1000 genomes]
rs11834248	1.00[AMR][1000 genomes]
rs11834310	1.00[AMR][1000 genomes]
rs11836332	1.00[AMR][1000 genomes]
rs11837720	1.00[AMR][1000 genomes]
rs12304470	1.00[YRI][hapmap]
rs13378041	1.00[AMR][1000 genomes]
rs57268497	1.00[AMR][1000 genomes]
rs59268299	1.00[AMR][1000 genomes]
rs59487164	1.00[AMR][1000 genomes]
rs60167482	1.00[AMR][1000 genomes]
rs60725885	1.00[AMR][1000 genomes]
rs73297963	1.00[AMR][1000 genomes]
rs73297974	1.00[AMR][1000 genomes]
rs73300007	1.00[AMR][1000 genomes]
rs73300028	1.00[AMR][1000 genomes]
rs73300044	1.00[AMR][1000 genomes]
rs73300051	1.00[AMR][1000 genomes]
rs73308084	1.00[AMR][1000 genomes]
rs73310015	1.00[AMR][1000 genomes]
rs73310018	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51317600-51322800	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr12:51317600-51323200	Active TSS	Brain Substantia Nigra	brain
3	chr12:51317800-51322400	Active TSS	Brain Anterior Caudate	brain
4	chr12:51317800-51322800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:51317800-51323000	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr12:51318000-51322200	Active TSS	Esophagus	oesophagus
7	chr12:51318000-51322200	Active TSS	NHLF	lung
8	chr12:51318000-51322400	Active TSS	Brain Angular Gyrus	brain
9	chr12:51318000-51322600	Active TSS	Ovary	ovary
10	chr12:51318600-51322400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr12:51318600-51322800	Active TSS	Gastric	stomach
12	chr12:51319000-51322800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:51319200-51322800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
14	chr12:51319200-51326400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:51319400-51322200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:51319400-51322400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr12:51319400-51322600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:51319400-51322600	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr12:51319400-51322800	Enhancers	NHEK	skin
20	chr12:51319400-51323400	Active TSS	Fetal Muscle Trunk	muscle
21	chr12:51319400-51323600	Enhancers	Dnd41	blood
22	chr12:51319400-51346200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:51319800-51323200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:51319800-51326200	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr12:51320200-51322800	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr12:51320200-51330600	Weak transcription	Primary T cells from cord blood	blood
27	chr12:51320400-51323400	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr12:51320400-51328600	Weak transcription	HSMM	muscle
29	chr12:51320600-51322200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:51320600-51322200	Enhancers	Fetal Heart	heart
31	chr12:51320600-51324000	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
32	chr12:51320600-51327400	Weak transcription	Placenta	Placenta
33	chr12:51320600-51328200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:51320800-51322400	Flanking Active TSS	Fetal Thymus	thymus
35	chr12:51320800-51322600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
36	chr12:51320800-51323000	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr12:51321000-51322200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr12:51321000-51322800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:51321000-51323000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr12:51321000-51323400	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr12:51321000-51325600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr12:51321200-51322200	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr12:51321200-51322400	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr12:51321200-51322600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:51321200-51322600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr12:51321200-51322600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr12:51321200-51322800	Flanking Active TSS	HepG2	liver
48	chr12:51321200-51323200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr12:51321200-51323200	Active TSS	Fetal Muscle Leg	muscle
50	chr12:51321200-51323400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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