Variant report

Variant	rs1812051
Chromosome Location	chr17:19584543-19584544
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:19578904..19580816-chr17:19583999..19586179,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs2108970	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2108971	0.88[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2386141	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2386142	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2386143	0.90[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2386145	0.88[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs28537694	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4925036	0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs6587201	0.84[AFR][1000 genomes]
rs7216	0.93[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs8069478	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs8069576	0.88[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs8074500	0.81[AFR][1000 genomes]
rs962800	0.88[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs9889632	0.82[AFR][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	nsv428337	chr17:19340045-19585774	Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv482827	chr17:19456848-19645771	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv1061408	chr17:19458185-19613357	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
5	nsv1062485	chr17:19558644-19608008	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1063892	chr17:19564634-19808485	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv907866	chr17:19582533-19697976	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1812051	ALDH3A2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19567600-19584800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr17:19568600-19606800	Weak transcription	Psoas Muscle	Psoas
3	chr17:19569800-19591000	Weak transcription	Fetal Brain Male	brain
4	chr17:19575000-19590200	Weak transcription	Right Ventricle	heart
5	chr17:19575400-19585400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr17:19575800-19584600	Weak transcription	HSMM	muscle
7	chr17:19575800-19586600	Weak transcription	Colon Smooth Muscle	Colon
8	chr17:19576000-19584600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr17:19576000-19596200	Weak transcription	Fetal Heart	heart
10	chr17:19577200-19585200	Strong transcription	Fetal Brain Female	brain
11	chr17:19578400-19585000	Strong transcription	Stomach Smooth Muscle	stomach
12	chr17:19578800-19585200	Strong transcription	Fetal Stomach	stomach
13	chr17:19580400-19584800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr17:19580600-19585200	Weak transcription	Primary T cells from cord blood	blood
15	chr17:19580600-19586600	Weak transcription	Colonic Mucosa	Colon
16	chr17:19580600-19586600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr17:19580600-19589200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr17:19580800-19585200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
19	chr17:19580800-19586800	Weak transcription	Fetal Intestine Large	intestine
20	chr17:19580800-19589600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr17:19581000-19584600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr17:19581000-19584800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr17:19581600-19584600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr17:19581600-19584600	Strong transcription	A549	lung
25	chr17:19581800-19584600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr17:19582400-19585200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr17:19582600-19586000	Weak transcription	Left Ventricle	heart
28	chr17:19582600-19594800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr17:19582600-19605600	Weak transcription	Fetal Kidney	kidney
30	chr17:19582800-19584600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr17:19582800-19584600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr17:19582800-19584600	Weak transcription	Pancreas	Pancrea
33	chr17:19582800-19584600	Weak transcription	HSMMtube	muscle
34	chr17:19582800-19584600	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr17:19582800-19584800	Weak transcription	Osteobl	bone
36	chr17:19582800-19586200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr17:19582800-19586400	Weak transcription	Adipose Nuclei	Adipose
38	chr17:19582800-19586400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr17:19582800-19586800	Weak transcription	Spleen	Spleen
40	chr17:19582800-19587000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr17:19582800-19588600	Weak transcription	Esophagus	oesophagus
42	chr17:19582800-19589200	Weak transcription	Liver	Liver
43	chr17:19582800-19589600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr17:19582800-19589800	Weak transcription	HepG2	liver
45	chr17:19582800-19590000	Weak transcription	Gastric	stomach
46	chr17:19583000-19584600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr17:19583000-19584600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr17:19583000-19584600	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr17:19583000-19584600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr17:19583000-19584600	Weak transcription	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links