Variant report

Variant	rs2067529
Chromosome Location	chr8:100630959-100630960
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr8:100630680-100631031	IMR90	lung:	n/a	n/a
2	FOS	chr8:100630901-100631288	HUVEC	blood vessel:	n/a	n/a
3	MAFK	chr8:100630687-100631024	HepG2	liver:	n/a	n/a
4	MAFK	chr8:100630684-100631047	HepG2	liver:	n/a	n/a
5	MAFF	chr8:100630699-100631033	HepG2	liver:	n/a	n/a
6	MAFK	chr8:100630707-100630972	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:100629647..100631528-chr8:100671490..100673021,2	K562	blood:

Variant related genes	Relation type
RN7SL350P	TF binding region

Extended variants
information (count: 92 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10504990	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10504991	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10504992	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11984855	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11987013	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11987034	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11988133	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11989649	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11992424	0.85[EUR][1000 genomes]
rs11992778	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11994623	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11996543	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1349244	0.85[EUR][1000 genomes]
rs1349245	0.85[EUR][1000 genomes]
rs1449786	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1449790	0.91[EUR][1000 genomes]
rs1449791	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1552443	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16897410	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16897439	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16897488	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16897504	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16897573	1.00[CHB][hapmap];0.91[CHD][hapmap]
rs16897656	0.85[EUR][1000 genomes]
rs16897662	0.85[EUR][1000 genomes]
rs16897666	0.85[EUR][1000 genomes]
rs16897685	0.85[EUR][1000 genomes]
rs16897701	0.85[EUR][1000 genomes]
rs16897702	0.85[EUR][1000 genomes]
rs16897708	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs16897713	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs16897726	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs16897728	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs17331148	0.85[EUR][1000 genomes]
rs1979115	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs1979117	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs2084554	0.81[EUR][1000 genomes]
rs2084555	0.81[EUR][1000 genomes]
rs2100220	0.81[EUR][1000 genomes]
rs2122341	0.85[EUR][1000 genomes]
rs2167101	0.85[EUR][1000 genomes]
rs2871953	0.81[EUR][1000 genomes]
rs28847009	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4288349	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4342557	0.85[EUR][1000 genomes]
rs4531021	0.81[EUR][1000 genomes]
rs4734434	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4734435	0.85[EUR][1000 genomes]
rs4734436	0.85[EUR][1000 genomes]
rs4734437	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs4734438	0.85[EUR][1000 genomes]
rs4734439	0.85[EUR][1000 genomes]
rs4735616	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4735622	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4735623	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4735624	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4735631	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4735632	0.85[EUR][1000 genomes]
rs4735634	0.85[EUR][1000 genomes]
rs4735635	0.85[EUR][1000 genomes]
rs4735636	0.85[EUR][1000 genomes]
rs4735637	0.85[EUR][1000 genomes]
rs4735638	0.85[EUR][1000 genomes]
rs4735642	0.82[EUR][1000 genomes]
rs4735644	0.85[EUR][1000 genomes]
rs4735645	0.85[EUR][1000 genomes]
rs4735646	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs57753543	0.85[EUR][1000 genomes]
rs61753724	0.85[EUR][1000 genomes]
rs7003135	0.82[EUR][1000 genomes]
rs7008629	0.85[EUR][1000 genomes]
rs7008833	0.85[EUR][1000 genomes]
rs73273207	0.82[EUR][1000 genomes]
rs7387462	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7387700	0.85[EUR][1000 genomes]
rs7832916	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7833256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7833870	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs921313	0.82[EUR][1000 genomes]

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	nsv524617	chr8:100032844-100717925	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1022914	chr8:100190356-100720313	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv539695	chr8:100190356-100720313	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv891226	chr8:100295634-100708595	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv891227	chr8:100295634-100743556	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1019256	chr8:100336249-100852803	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
7	nsv539698	chr8:100336249-100852803	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
8	esv2758167	chr8:100404151-100838624	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
9	esv2759633	chr8:100404151-100838624	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1029616	chr8:100442135-100796643	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
11	nsv1023922	chr8:100474230-100702005	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
12	nsv831408	chr8:100523523-100721507	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
13	nsv1033795	chr8:100557344-100666640	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2067529	PLAUR	trans	lymphoblastoid	seeQTL

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100598400-100631200	Weak transcription	Left Ventricle	heart
2	chr8:100599400-100632400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:100602600-100631200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr8:100619200-100631200	Weak transcription	Aorta	Aorta
5	chr8:100622200-100631200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr8:100622200-100655400	Weak transcription	Primary B cells from cord blood	blood
7	chr8:100624600-100645200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr8:100625000-100632400	Weak transcription	NHLF	lung
9	chr8:100625600-100631000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr8:100630000-100631600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:100630200-100631200	Weak transcription	Right Ventricle	heart
12	chr8:100630200-100631600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr8:100630200-100633200	Enhancers	Osteobl	bone
14	chr8:100630600-100631000	Weak transcription	Fetal Intestine Large	intestine
15	chr8:100630600-100631000	Enhancers	Fetal Stomach	stomach
16	chr8:100630600-100631200	Enhancers	Fetal Lung	lung
17	chr8:100630600-100631200	Enhancers	NHDF-Ad	bronchial
18	chr8:100630600-100631400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:100630600-100631600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:100630600-100631600	Enhancers	Fetal Heart	heart
21	chr8:100630600-100633200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:100630600-100633600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:100630800-100631000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:100630800-100631400	Flanking Active TSS	HUVEC	blood vessel
25	chr8:100630800-100631600	Enhancers	Primary T cells from cord blood	blood
26	chr8:100630800-100631600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr8:100630800-100632000	Enhancers	Fetal Intestine Small	intestine

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