Variant report

Variant	rs8064572
Chromosome Location	chr17:19606727-19606728
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:19587883..19589687-chr17:19605818..19607687,2	MCF-7	breast:
2	chr17:19605174..19607538-chr17:19611782..19614497,2	MCF-7	breast:
3	chr17:19605469..19607365-chr17:19608848..19610393,2	MCF-7	breast:
4	chr17:19601642..19603710-chr17:19606579..19609568,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1006554	0.90[ASN][1000 genomes]
rs11204413	0.90[ASN][1000 genomes]
rs11204414	0.88[ASN][1000 genomes]
rs12942065	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12948209	0.97[ASN][1000 genomes]
rs12948735	0.90[ASN][1000 genomes]
rs157404	0.86[JPT][hapmap]
rs2108967	1.00[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs281357	0.86[JPT][hapmap]
rs3744693	1.00[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs4646784	1.00[CHB][hapmap]
rs4646787	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs4924793	0.90[ASN][1000 genomes]
rs4925044	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.97[ASN][1000 genomes]
rs7212752	0.91[ASN][1000 genomes]
rs7214841	1.00[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs7221211	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs7222877	1.00[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs8081130	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs887241	1.00[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs9906049	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9910370	1.00[JPT][hapmap];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	esv1807724	chr17:19597423-19656009	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv907867	chr17:19603060-19697976	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh 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	21 gene(s)	inside rSNPs	diseases
9	esv1793043	chr17:19604821-19670329	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8064572	ALDH3A2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19568600-19606800	Weak transcription	Psoas Muscle	Psoas
2	chr17:19583400-19606800	Weak transcription	Ovary	ovary
3	chr17:19585200-19607000	Weak transcription	Aorta	Aorta
4	chr17:19590600-19607400	Weak transcription	Liver	Liver
5	chr17:19604600-19609400	Weak transcription	Esophagus	oesophagus
6	chr17:19605000-19607400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr17:19605000-19608000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr17:19605400-19608000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr17:19605600-19607200	Enhancers	Brain Cingulate Gyrus	brain
10	chr17:19605600-19607200	Enhancers	Brain Hippocampus Middle	brain
11	chr17:19605600-19608000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr17:19605600-19608000	Enhancers	Fetal Kidney	kidney
13	chr17:19605600-19608400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr17:19605800-19607200	Enhancers	Brain Angular Gyrus	brain
15	chr17:19605800-19607200	Enhancers	Brain Anterior Caudate	brain
16	chr17:19605800-19607400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr17:19605800-19608200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr17:19605800-19610800	Enhancers	Fetal Muscle Leg	muscle
19	chr17:19606000-19607200	Enhancers	Spleen	Spleen
20	chr17:19606000-19608600	Enhancers	Fetal Heart	heart
21	chr17:19606200-19607800	Enhancers	Left Ventricle	heart
22	chr17:19606200-19607800	Enhancers	Right Ventricle	heart
23	chr17:19606200-19607800	Enhancers	A549	lung
24	chr17:19606200-19610800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr17:19606200-19613600	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr17:19606400-19607400	Enhancers	Brain Substantia Nigra	brain
27	chr17:19606400-19607600	Enhancers	Fetal Stomach	stomach
28	chr17:19606400-19607600	Enhancers	Gastric	stomach
29	chr17:19606400-19607600	Enhancers	Lung	lung
30	chr17:19606400-19607600	Enhancers	Right Atrium	heart
31	chr17:19606400-19607600	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr17:19606400-19607800	Enhancers	Placenta	Placenta
33	chr17:19606400-19608000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr17:19606400-19608000	Enhancers	HSMMtube	muscle
35	chr17:19606400-19608200	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr17:19606400-19608200	Flanking Active TSS	HepG2	liver
37	chr17:19606400-19608800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr17:19606400-19609600	Enhancers	Fetal Muscle Trunk	muscle
39	chr17:19606400-19610600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr17:19606600-19607200	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr17:19606600-19607200	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr17:19606600-19607400	Enhancers	HSMM	muscle
43	chr17:19606600-19607800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr17:19606600-19607800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr17:19606600-19607800	Enhancers	Pancreas	Pancrea
46	chr17:19606600-19607800	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr17:19606600-19608000	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr17:19606600-19608000	Enhancers	Fetal Lung	lung
49	chr17:19606600-19608000	Enhancers	Placenta Amnion	Placenta Amnion

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links