Variant report

Variant	rs1034896
Chromosome Location	chr17:19573059-19573060
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1025904	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11650399	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11653348	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12453452	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12453474	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12602112	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12603959	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12937179	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12938816	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12949521	0.83[AMR][1000 genomes]
rs1800869	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1806922	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2072331	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2072333	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2245724	0.81[AMR][1000 genomes]
rs2386144	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2891952	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34943952	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35797108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35852749	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4598966	0.81[EUR][1000 genomes]
rs4646797	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4646798	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66462929	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71369434	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7223468	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72840391	0.82[AMR][1000 genomes]
rs7503517	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8064748	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8068713	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8073053	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs8080672	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9797254	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9909440	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv1055361	chr17:19515267-19582503	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv907865	chr17:19558722-19575721	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	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
9	esv3413345	chr17:19570660-19573458	Strong transcription Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
10	esv3378019	chr17:19571160-19573358	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1034896	ALDH3A2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19553200-19577400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr17:19553200-19580000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr17:19554800-19574400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr17:19555000-19581800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr17:19555000-19582800	Weak transcription	HUVEC	blood vessel
6	chr17:19555200-19576400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr17:19555600-19578600	Weak transcription	Small Intestine	intestine
8	chr17:19558400-19579200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr17:19559200-19574200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr17:19559400-19575000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr17:19559400-19575400	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr17:19559600-19578600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr17:19559800-19577200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr17:19564000-19581000	Weak transcription	Thymus	Thymus
15	chr17:19564800-19574600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr17:19565400-19575800	Strong transcription	Fetal Stomach	stomach
17	chr17:19567000-19575800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr17:19567400-19574400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr17:19567400-19574400	Weak transcription	Fetal Heart	heart
20	chr17:19567400-19574800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr17:19567600-19574400	Weak transcription	Primary B cells from cord blood	blood
22	chr17:19567600-19574400	Weak transcription	Stomach Mucosa	stomach
23	chr17:19567600-19578600	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr17:19567600-19584800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr17:19567800-19574600	Weak transcription	NHDF-Ad	bronchial
26	chr17:19567800-19575200	Weak transcription	HSMM	muscle
27	chr17:19567800-19578600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr17:19568400-19573200	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr17:19568400-19574400	Weak transcription	Right Atrium	heart
30	chr17:19568400-19574600	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr17:19568400-19574600	Weak transcription	Hela-S3	cervix
32	chr17:19568400-19574800	Weak transcription	Osteobl	bone
33	chr17:19568400-19581800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr17:19568600-19574200	Weak transcription	Primary B cells from peripheral blood	blood
35	chr17:19568600-19575200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr17:19568600-19606800	Weak transcription	Psoas Muscle	Psoas
37	chr17:19569000-19582000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr17:19569200-19574400	Weak transcription	Primary hematopoietic stem cells	blood
39	chr17:19569200-19574400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr17:19569400-19574000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr17:19569400-19574200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr17:19569400-19574200	Weak transcription	HSMMtube	muscle
43	chr17:19569400-19574400	Weak transcription	Left Ventricle	heart
44	chr17:19569400-19577000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr17:19569600-19573200	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr17:19569600-19574000	Weak transcription	Brain Hippocampus Middle	brain
47	chr17:19569600-19574200	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr17:19569600-19574200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr17:19569600-19574200	Weak transcription	Brain Cingulate Gyrus	brain
50	chr17:19569600-19574200	Weak transcription	Esophagus	oesophagus

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