Variant report

Variant	rs14151
Chromosome Location	chr21:45406095-45406096
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45391227..45394196-chr21:45402468..45407272,4	K562	blood:
2	chr21:45395089..45398039-chr21:45405481..45407221,3	MCF-7	breast:
3	chr21:45171543..45174719-chr21:45405965..45408527,3	K562	blood:
4	chr21:45405585..45409105-chr21:45429357..45434813,4	K562	blood:
5	chr21:45400381..45403322-chr21:45403855..45406530,2	K562	blood:
6	chr21:45403511..45408258-chr21:45429516..45434550,7	MCF-7	breast:
7	chr21:45405792..45407714-chr21:45431935..45434598,2	MCF-7	breast:
8	chr21:45391777..45394630-chr21:45405827..45408777,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000160216	Chromatin interaction
ENSG00000160209	Chromatin interaction
ENSG00000160218	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11537799	0.82[ASN][1000 genomes]
rs2254072	0.95[CHB][hapmap]
rs2838447	0.86[CHB][hapmap]
rs2838455	0.95[CHB][hapmap];0.84[JPT][hapmap]
rs2838458	0.95[CHB][hapmap];0.84[JPT][hapmap]
rs3788094	0.95[MEX][hapmap]
rs3788096	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs6518343	0.82[ASN][1000 genomes]
rs7276207	0.86[CHB][hapmap];0.87[CHD][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs7276281	0.82[ASN][1000 genomes]
rs7282631	0.90[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs743469	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs915876	0.95[CHB][hapmap];0.84[JPT][hapmap]
rs9983354	1.00[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv913888	chr21:45351206-45428278	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv913889	chr21:45361044-45414119	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv1063752	chr21:45406095-45460342	Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs14151	BACE2	cis	cerebellum	SCAN

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45378800-45420200	Weak transcription	Right Atrium	heart
2	chr21:45391600-45406800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr21:45392000-45406800	Weak transcription	NHEK	skin
4	chr21:45393200-45413800	Weak transcription	HSMMtube	muscle
5	chr21:45402000-45408800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr21:45402200-45406600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr21:45402800-45406600	Weak transcription	Colonic Mucosa	Colon
8	chr21:45403200-45407200	Enhancers	Fetal Thymus	thymus
9	chr21:45403600-45407000	Weak transcription	Psoas Muscle	Psoas
10	chr21:45404000-45417400	Weak transcription	Gastric	stomach
11	chr21:45404200-45406400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr21:45404200-45406600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr21:45404200-45406600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr21:45404200-45406800	Weak transcription	Lung	lung
15	chr21:45404200-45406800	Weak transcription	Ovary	ovary
16	chr21:45404200-45406800	Weak transcription	Right Ventricle	heart
17	chr21:45404200-45407000	Weak transcription	Left Ventricle	heart
18	chr21:45404200-45407400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr21:45404200-45408000	Weak transcription	Esophagus	oesophagus
20	chr21:45404600-45407400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr21:45404800-45408200	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr21:45405000-45407000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr21:45405000-45407200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr21:45405200-45406800	Enhancers	Brain Hippocampus Middle	brain
25	chr21:45405400-45406200	Active TSS	H9 Cell Line	embryonic stem cell
26	chr21:45405400-45406200	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr21:45405400-45406200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr21:45405400-45406200	Enhancers	Primary T cells fromperipheralblood	blood
29	chr21:45405400-45406200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr21:45405400-45406400	Enhancers	Primary hematopoietic stem cells	blood
31	chr21:45405400-45406600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr21:45405400-45406800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr21:45405400-45408200	Enhancers	Brain Angular Gyrus	brain
34	chr21:45405400-45408200	Enhancers	Brain Anterior Caudate	brain
35	chr21:45405400-45408200	Enhancers	Brain Cingulate Gyrus	brain
36	chr21:45405400-45408200	Enhancers	Brain Substantia Nigra	brain
37	chr21:45405400-45409200	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr21:45405600-45406200	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr21:45405600-45406200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
40	chr21:45405600-45406200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr21:45405600-45406200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr21:45405600-45406200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr21:45405600-45406200	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr21:45405600-45406200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr21:45405600-45406200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
46	chr21:45405600-45406200	Bivalent Enhancer	Fetal Muscle Leg	muscle
47	chr21:45405600-45406200	Bivalent Enhancer	Fetal Stomach	stomach
48	chr21:45405600-45406200	Enhancers	Pancreas	Pancrea
49	chr21:45405600-45406200	Enhancers	Placenta Amnion	Placenta Amnion
50	chr21:45405600-45406400	Enhancers	Primary T cells from cord blood	blood

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