Variant report

Variant	rs3782138
Chromosome Location	chr12:11918958-11918959
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs3825083	0.91[ASN][1000 genomes]
rs73066983	0.85[ASN][1000 genomes]
rs7311189	0.84[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs7963499	0.89[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7973524	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870039	chr12:11800363-11996598	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
2	nsv1053609	chr12:11898099-11933906	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv469113	chr12:11913360-11931259	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv557574	chr12:11913360-11931259	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv469114	chr12:11916908-11929481	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv557575	chr12:11916908-11929481	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	1 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	chr12:11908600-11931800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:11909200-11919400	Weak transcription	Liver	Liver
3	chr12:11909600-11932400	Genic enhancers	Fetal Thymus	thymus
4	chr12:11909800-11919000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:11913400-11919000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:11914200-11919000	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr12:11914200-11919800	Enhancers	Brain Anterior Caudate	brain
8	chr12:11914400-11919200	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr12:11914400-11921600	Enhancers	Primary B cells from peripheral blood	blood
10	chr12:11914400-11925400	Genic enhancers	Dnd41	blood
11	chr12:11914400-11925800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr12:11914600-11920400	Enhancers	Fetal Stomach	stomach
13	chr12:11914800-11923600	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr12:11915000-11919800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:11915000-11919800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:11915000-11919800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr12:11915000-11919800	Enhancers	Left Ventricle	heart
18	chr12:11915000-11920000	Enhancers	Stomach Mucosa	stomach
19	chr12:11915200-11920000	Enhancers	Osteobl	bone
20	chr12:11915400-11920000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:11915400-11920800	Weak transcription	Gastric	stomach
22	chr12:11915400-11938000	Weak transcription	NHEK	skin
23	chr12:11915600-11920000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:11915600-11921800	Enhancers	Fetal Muscle Leg	muscle
25	chr12:11915600-11938000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr12:11916200-11919800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:11916600-11919200	Enhancers	Fetal Kidney	kidney
28	chr12:11916600-11922000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr12:11916800-11920000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
30	chr12:11916800-11921400	Enhancers	Thymus	Thymus
31	chr12:11916800-11921600	Enhancers	Brain Hippocampus Middle	brain
32	chr12:11917000-11919800	Enhancers	Fetal Heart	heart
33	chr12:11917000-11920600	Enhancers	Spleen	Spleen
34	chr12:11917200-11920000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr12:11917400-11919600	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr12:11917400-11919600	Enhancers	HSMM	muscle
37	chr12:11917400-11920200	Weak transcription	HepG2	liver
38	chr12:11917400-11922000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr12:11917600-11919000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr12:11917600-11919000	Weak transcription	Brain Angular Gyrus	brain
41	chr12:11917600-11919000	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr12:11917600-11919600	Weak transcription	Pancreas	Pancrea
43	chr12:11917600-11919800	Enhancers	Placenta	Placenta
44	chr12:11917600-11920200	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr12:11917800-11919800	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr12:11917800-11919800	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr12:11918000-11919400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:11918000-11919400	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr12:11918000-11919600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr12:11918000-11919800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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