Variant report

Variant	rs3825083
Chromosome Location	chr12:11919407-11919408
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11054445	0.90[EUR][1000 genomes]
rs11609711	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1986946	0.82[EUR][1000 genomes]
rs2051526	0.81[EUR][1000 genomes]
rs3782135	0.81[EUR][1000 genomes]
rs3782138	0.91[ASN][1000 genomes]
rs4763726	0.81[AFR][1000 genomes]
rs60587284	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs73066983	0.86[EUR][1000 genomes]
rs7311189	0.86[EUR][1000 genomes]
rs7963499	0.85[ASN][1000 genomes]

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:116 , 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	chr12:11909600-11932400	Genic enhancers	Fetal Thymus	thymus
3	chr12:11914200-11919800	Enhancers	Brain Anterior Caudate	brain
4	chr12:11914400-11921600	Enhancers	Primary B cells from peripheral blood	blood
5	chr12:11914400-11925400	Genic enhancers	Dnd41	blood
6	chr12:11914400-11925800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:11914600-11920400	Enhancers	Fetal Stomach	stomach
8	chr12:11914800-11923600	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr12:11915000-11919800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:11915000-11919800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:11915000-11919800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr12:11915000-11919800	Enhancers	Left Ventricle	heart
13	chr12:11915000-11920000	Enhancers	Stomach Mucosa	stomach
14	chr12:11915200-11920000	Enhancers	Osteobl	bone
15	chr12:11915400-11920000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:11915400-11920800	Weak transcription	Gastric	stomach
17	chr12:11915400-11938000	Weak transcription	NHEK	skin
18	chr12:11915600-11920000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:11915600-11921800	Enhancers	Fetal Muscle Leg	muscle
20	chr12:11915600-11938000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:11916200-11919800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:11916600-11922000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr12:11916800-11920000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
24	chr12:11916800-11921400	Enhancers	Thymus	Thymus
25	chr12:11916800-11921600	Enhancers	Brain Hippocampus Middle	brain
26	chr12:11917000-11919800	Enhancers	Fetal Heart	heart
27	chr12:11917000-11920600	Enhancers	Spleen	Spleen
28	chr12:11917200-11920000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr12:11917400-11919600	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr12:11917400-11919600	Enhancers	HSMM	muscle
31	chr12:11917400-11920200	Weak transcription	HepG2	liver
32	chr12:11917400-11922000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr12:11917600-11919600	Weak transcription	Pancreas	Pancrea
34	chr12:11917600-11919800	Enhancers	Placenta	Placenta
35	chr12:11917600-11920200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr12:11917800-11919800	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr12:11917800-11919800	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr12:11918000-11919600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:11918000-11919800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:11918000-11920000	Enhancers	NH-A	brain
41	chr12:11918000-11920200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr12:11918000-11920400	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr12:11918000-11921200	Enhancers	Fetal Lung	lung
44	chr12:11918000-11923600	Enhancers	Adipose Nuclei	Adipose
45	chr12:11918000-11923800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr12:11918000-11936000	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr12:11918200-11919600	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr12:11918200-11919800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr12:11918200-11920000	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr12:11918200-11920000	Enhancers	Primary T helper naive cells from peripheral blood	blood

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