Variant report

Variant	rs73283981
Chromosome Location	chr12:47219698-47219699
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs57169663	0.88[AFR][1000 genomes]
rs73283976	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	esv1845143	chr12:47051076-47431496	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47217400-47220200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr12:47218600-47220200	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr12:47219200-47219800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:47219200-47219800	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr12:47219200-47220000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr12:47219200-47220000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:47219200-47220000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:47219200-47220000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:47219200-47220000	Active TSS	Fetal Muscle Leg	muscle
10	chr12:47219200-47220000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
11	chr12:47219200-47220000	Flanking Active TSS	HepG2	liver
12	chr12:47219200-47220200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:47219200-47220200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr12:47219200-47220200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:47219200-47220200	Flanking Active TSS	Liver	Liver
16	chr12:47219200-47220200	Bivalent/Poised TSS	NH-A	brain
17	chr12:47219400-47219800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr12:47219400-47219800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:47219400-47219800	Active TSS	H9 Cell Line	embryonic stem cell
20	chr12:47219400-47219800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:47219400-47219800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr12:47219400-47219800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr12:47219400-47219800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:47219400-47219800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr12:47219400-47219800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
26	chr12:47219400-47219800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
27	chr12:47219400-47219800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
28	chr12:47219400-47219800	Flanking Active TSS	Fetal Intestine Small	intestine
29	chr12:47219400-47219800	Bivalent/Poised TSS	Left Ventricle	heart
30	chr12:47219400-47219800	Flanking Active TSS	Placenta Amnion	Placenta Amnion
31	chr12:47219400-47219800	Flanking Active TSS	Psoas Muscle	Psoas
32	chr12:47219400-47219800	Active TSS	Right Ventricle	heart
33	chr12:47219400-47219800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr12:47219400-47219800	Active TSS	HSMM	muscle
35	chr12:47219400-47219800	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
36	chr12:47219400-47219800	Flanking Active TSS	NHDF-Ad	bronchial
37	chr12:47219400-47220000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr12:47219400-47220000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
39	chr12:47219400-47220000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
40	chr12:47219400-47220000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
41	chr12:47219400-47220000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
42	chr12:47219400-47220000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:47219400-47220000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr12:47219400-47220000	Flanking Active TSS	Aorta	Aorta
45	chr12:47219400-47220000	Flanking Active TSS	Fetal Heart	heart
46	chr12:47219400-47220000	Flanking Bivalent TSS/Enh	Fetal Lung	lung
47	chr12:47219400-47220000	Active TSS	Right Atrium	heart
48	chr12:47219400-47220000	Bivalent Enhancer	Stomach Mucosa	stomach
49	chr12:47219400-47220000	Flanking Active TSS	HMEC	breast
50	chr12:47219400-47220000	Active TSS	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links