Variant report

Variant	rs1533059
Chromosome Location	chr8:8684953-8684954
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1039915	0.96[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1039916	0.96[CEU][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11249891	0.81[EUR][1000 genomes]
rs11249893	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11775523	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11777085	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11784052	0.85[CEU][hapmap];0.81[CHB][hapmap];0.98[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12544992	0.87[CEU][hapmap];0.81[CHB][hapmap];0.92[JPT][hapmap];0.85[EUR][1000 genomes]
rs12545499	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12547493	0.85[CEU][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12677543	0.80[EUR][1000 genomes]
rs12682352	0.89[CEU][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13259070	0.86[EUR][1000 genomes]
rs13259216	0.93[CEU][hapmap];0.81[CHB][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1510934	0.88[CHB][hapmap];0.93[JPT][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs1533058	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2048419	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2271342	0.81[AMR][1000 genomes]
rs2409092	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2409096	0.88[CHB][hapmap];0.86[JPT][hapmap];0.86[TSI][hapmap];0.85[EUR][1000 genomes]
rs2428	0.85[CEU][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap]
rs332040	0.85[CEU][hapmap];0.89[MEX][hapmap]
rs35039922	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35431455	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3789849	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs408459	0.89[MEX][hapmap]
rs4382480	0.89[CEU][hapmap];0.90[MEX][hapmap]
rs4481596	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4840362	0.85[CEU][hapmap];0.81[CHB][hapmap];0.98[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4841040	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4841042	0.85[CEU][hapmap];0.81[CHB][hapmap];0.98[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4841045	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4841051	0.96[CEU][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4841054	0.88[CHB][hapmap];0.93[JPT][hapmap]
rs486781	0.80[AMR][1000 genomes]
rs57312668	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59046059	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs60315134	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6994038	0.81[CEU][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7820738	0.94[CHB][hapmap];0.82[TSI][hapmap]
rs7823757	0.84[CEU][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7832968	0.88[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs882462	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs907180	0.94[CHB][hapmap]
rs907181	0.94[CHB][hapmap]
rs907183	0.89[CEU][hapmap];0.89[MEX][hapmap]
rs9329167	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1019606	chr8:8353661-8736992	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv539456	chr8:8353661-8736992	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1022511	chr8:8493992-8737132	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv539457	chr8:8493992-8737132	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	esv1824870	chr8:8583943-8699382	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
8	nsv831228	chr8:8608387-8790790	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv1018828	chr8:8609880-8790660	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv1022331	chr8:8610035-8787981	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
11	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
12	nsv890338	chr8:8669622-8707970	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1015437	chr8:8681255-8723798	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs1533059	TDH	cis	cerebellum	SCAN
rs1533059	FLJ10661	cis	cerebellum	SCAN
rs1533059	SGK223	cis	Thyroid	GTEx
rs1533059	C8orf13	cis	multi-tissue	Pritchard
rs1533059	CTSB	cis	cerebellum	SCAN
rs1533059	PPP1R3B	cis	cerebellum	SCAN
rs1533059	PRSS55	cis	cerebellum	SCAN
rs1533059	CLDN23	cis	multi-tissue	Pritchard
rs1533059	C8orf5	Cis_chr	lymphoblastoid	RTeQTL
rs1533059	MFHAS1	cis	cerebellum	SCAN
rs1533059	BLK	Cis_chr	lymphoblastoid	RTeQTL
rs1533059	RP11-62H7.2	cis	Thyroid	GTEx

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8655600-8685600	Weak transcription	Fetal Brain Female	brain
2	chr8:8658400-8687200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr8:8663400-8691800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:8664200-8691400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:8664400-8691800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:8667200-8685800	Weak transcription	Right Atrium	heart
7	chr8:8667200-8686200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:8667200-8699200	Weak transcription	Aorta	Aorta
9	chr8:8667200-8701600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr8:8667400-8685400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr8:8667400-8686000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:8667400-8693400	Weak transcription	Small Intestine	intestine
13	chr8:8667600-8685800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr8:8667600-8701000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr8:8670000-8701200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:8670200-8701200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr8:8670400-8685800	Weak transcription	Thymus	Thymus
18	chr8:8670400-8705400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr8:8670800-8692400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr8:8671000-8692000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr8:8672000-8700200	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr8:8674800-8701800	Weak transcription	Primary T cells from cord blood	blood
23	chr8:8675200-8699000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr8:8675400-8685800	Weak transcription	Gastric	stomach
25	chr8:8675600-8685400	Weak transcription	Ovary	ovary
26	chr8:8675600-8686000	Weak transcription	Pancreas	Pancrea
27	chr8:8675800-8699800	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr8:8676200-8699400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr8:8676400-8685600	Weak transcription	Colon Smooth Muscle	Colon
30	chr8:8676600-8691400	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr8:8677200-8686000	Weak transcription	Liver	Liver
32	chr8:8678000-8688000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr8:8678600-8694400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr8:8678800-8685600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr8:8678800-8685800	Weak transcription	Left Ventricle	heart
36	chr8:8678800-8701600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr8:8679400-8686000	Weak transcription	Right Ventricle	heart
38	chr8:8679600-8701400	Weak transcription	A549	lung
39	chr8:8679600-8701600	Weak transcription	HepG2	liver
40	chr8:8680000-8686200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr8:8680400-8685400	Weak transcription	Fetal Stomach	stomach
42	chr8:8680400-8685600	Weak transcription	Stomach Smooth Muscle	stomach
43	chr8:8680400-8685600	Weak transcription	Spleen	Spleen
44	chr8:8680400-8700200	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr8:8680600-8685800	Weak transcription	Fetal Kidney	kidney
46	chr8:8680600-8685800	Weak transcription	Lung	lung
47	chr8:8680800-8685600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr8:8680800-8687400	Weak transcription	Brain Angular Gyrus	brain
49	chr8:8681000-8686200	Weak transcription	Fetal Muscle Trunk	muscle
50	chr8:8681800-8685400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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