Variant report

Variant	rs3819148
Chromosome Location	chr21:15399972-15399973
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1810863	1.00[EUR][1000 genomes]
rs2187066	0.82[ASN][1000 genomes]
rs2822389	0.82[ASN][1000 genomes]
rs2822391	0.82[ASN][1000 genomes]
rs2822394	0.85[ASN][1000 genomes]
rs3958164	1.00[EUR][1000 genomes]
rs4816915	0.82[ASN][1000 genomes]
rs61569411	1.00[EUR][1000 genomes]
rs7276301	0.85[ASN][1000 genomes]
rs9981819	0.80[ASN][1000 genomes]
rs9984987	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058202	chr21:14706767-15628668	Weak transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	nsv1067433	chr21:14736298-15507502	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1055396	chr21:14756514-15507502	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
4	nsv1062639	chr21:14775729-15507502	Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
5	nsv587015	chr21:14957973-15448560	Genic enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
6	nsv913388	chr21:15173846-15400618	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1058072	chr21:15372509-15568171	Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15399200-15400200	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr21:15399200-15400200	Active TSS	Primary T cells from cord blood	blood
3	chr21:15399200-15400200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
4	chr21:15399200-15400200	Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr21:15399200-15400200	Active TSS	Brain Anterior Caudate	brain
6	chr21:15399200-15400200	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr21:15399200-15400200	Active TSS	Right Atrium	heart
8	chr21:15399200-15400200	Active TSS	HSMMtube	muscle
9	chr21:15399200-15400400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr21:15399200-15400400	Active TSS	Brain Hippocampus Middle	brain
11	chr21:15399200-15400400	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr21:15399200-15400400	Active TSS	Osteobl	bone
13	chr21:15399200-15400600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr21:15399200-15400600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr21:15399200-15400600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr21:15399200-15400600	Active TSS	A549	lung
17	chr21:15399200-15400600	Active TSS	Hela-S3	cervix
18	chr21:15399200-15400600	Active TSS	HepG2	liver
19	chr21:15399200-15400600	Active TSS	NHEK	skin
20	chr21:15399200-15400800	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr21:15399200-15400800	Active TSS	Muscle Satellite Cultured Cells	--
22	chr21:15399200-15401000	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr21:15399200-15401000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr21:15399200-15401200	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr21:15399200-15401200	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr21:15399200-15401400	Active TSS	Brain Germinal Matrix	brain
27	chr21:15399200-15401600	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr21:15399200-15401600	Active TSS	Fetal Brain Female	brain
29	chr21:15399200-15403800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr21:15399400-15400000	Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr21:15399400-15400200	Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr21:15399400-15400200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr21:15399400-15400200	Active TSS	Brain Substantia Nigra	brain
34	chr21:15399400-15400200	Active TSS	Colonic Mucosa	Colon
35	chr21:15399400-15400200	Active TSS	Fetal Intestine Large	intestine
36	chr21:15399400-15400200	Active TSS	Gastric	stomach
37	chr21:15399400-15400200	Active TSS	Left Ventricle	heart
38	chr21:15399400-15400200	Active TSS	Ovary	ovary
39	chr21:15399400-15400200	Active TSS	Pancreas	Pancrea
40	chr21:15399400-15400200	Active TSS	Rectal Mucosa Donor 31	rectum
41	chr21:15399400-15400200	Active TSS	Right Ventricle	heart
42	chr21:15399400-15400200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr21:15399400-15400400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr21:15399400-15400400	Active TSS	Primary hematopoietic stem cells	blood
45	chr21:15399400-15400400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr21:15399400-15400400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr21:15399400-15400400	Active TSS	Adipose Nuclei	Adipose
48	chr21:15399400-15400400	Active TSS	Brain Angular Gyrus	brain
49	chr21:15399400-15400400	Active TSS	Brain Cingulate Gyrus	brain
50	chr21:15399400-15400400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links