Variant report

Variant	rs11988133
Chromosome Location	chr8:100495534-100495535
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:100485436..100487741-chr8:100494328..100496741,2	K562	blood:
2	chr8:100494882..100496542-chr8:100496740..100499297,2	MCF-7	breast:

Extended variants
information (count: 103 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs1021415	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10504988	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10504990	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10504991	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10504992	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[LWK][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11984855	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11985286	0.91[ASN][1000 genomes]
rs11987013	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11987034	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11989163	0.85[ASN][1000 genomes]
rs11989337	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11989649	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11990072	0.80[ASN][1000 genomes]
rs11991039	0.86[ASN][1000 genomes]
rs11992424	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11992778	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11994445	0.80[ASN][1000 genomes]
rs11994623	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11995956	0.80[ASN][1000 genomes]
rs11996543	0.94[EUR][1000 genomes]
rs1349244	0.88[EUR][1000 genomes]
rs1349245	0.88[EUR][1000 genomes]
rs1449786	0.88[EUR][1000 genomes]
rs1449790	0.94[EUR][1000 genomes]
rs1449791	0.94[EUR][1000 genomes]
rs1552443	0.85[CEU][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16897255	0.85[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];0.81[LWK][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.80[ASN][1000 genomes]
rs16897302	0.86[ASN][1000 genomes]
rs16897325	1.00[CHB][hapmap];0.90[CHD][hapmap];0.85[LWK][hapmap];0.85[MKK][hapmap];0.91[ASN][1000 genomes]
rs16897326	1.00[CHB][hapmap];0.90[CHD][hapmap];0.91[ASN][1000 genomes]
rs16897410	0.87[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16897439	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[LWK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16897488	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16897504	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2067529	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2084554	0.85[EUR][1000 genomes]
rs2084555	0.85[EUR][1000 genomes]
rs2100220	0.85[EUR][1000 genomes]
rs2122341	0.88[EUR][1000 genomes]
rs2167101	0.88[EUR][1000 genomes]
rs2871953	0.85[EUR][1000 genomes]
rs28847009	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34064887	0.91[ASN][1000 genomes]
rs4288349	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4342557	0.88[EUR][1000 genomes]
rs4531021	0.85[EUR][1000 genomes]
rs4734429	0.80[ASN][1000 genomes]
rs4734434	1.00[EUR][1000 genomes]
rs4734435	0.88[EUR][1000 genomes]
rs4734436	0.88[EUR][1000 genomes]
rs4734437	0.88[EUR][1000 genomes]
rs4735608	0.80[ASN][1000 genomes]
rs4735611	0.80[ASN][1000 genomes]
rs4735612	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs4735616	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4735622	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4735623	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4735624	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4735631	0.94[EUR][1000 genomes]
rs4735632	0.88[EUR][1000 genomes]
rs4735634	0.88[EUR][1000 genomes]
rs4735635	0.88[EUR][1000 genomes]
rs4735636	0.88[EUR][1000 genomes]
rs4735637	0.88[EUR][1000 genomes]
rs4735638	0.88[EUR][1000 genomes]
rs61753724	0.88[EUR][1000 genomes]
rs6982694	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6987040	0.86[ASN][1000 genomes]
rs7008629	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7008833	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72672349	0.80[ASN][1000 genomes]
rs72672353	0.80[ASN][1000 genomes]
rs72672355	0.80[ASN][1000 genomes]
rs72672374	0.80[ASN][1000 genomes]
rs72672378	0.80[ASN][1000 genomes]
rs72674605	0.91[ASN][1000 genomes]
rs72674607	0.91[ASN][1000 genomes]
rs72674611	0.91[ASN][1000 genomes]
rs72674612	0.91[ASN][1000 genomes]
rs72674616	0.91[ASN][1000 genomes]
rs72674626	0.94[ASN][1000 genomes]
rs7387462	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7387700	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7462943	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7832916	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[LWK][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7833256	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[LWK][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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	nsv1020614	chr8:100046692-100594092	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1026442	chr8:100075230-100561451	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv539694	chr8:100075230-100561451	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv1031100	chr8:100290887-100508952	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv539697	chr8:100290887-100508952	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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
12	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
13	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
14	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
15	nsv933879	chr8:100417371-100622310	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
16	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
17	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11988133	PLAUR	trans	lymphoblastoid	seeQTL

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100399800-100498400	Weak transcription	Thymus	Thymus
2	chr8:100446200-100500400	Weak transcription	Fetal Thymus	thymus
3	chr8:100471400-100500800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr8:100473200-100504600	Weak transcription	Aorta	Aorta
5	chr8:100473200-100508000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr8:100473200-100510400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:100473400-100526000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr8:100473600-100497600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr8:100473600-100504400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr8:100473600-100508000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr8:100473600-100508000	Weak transcription	Small Intestine	intestine
12	chr8:100473800-100500600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr8:100474000-100498600	Weak transcription	Ovary	ovary
14	chr8:100474000-100510800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr8:100474400-100515400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:100476800-100499000	Weak transcription	Lung	lung
17	chr8:100477000-100498800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:100477200-100507400	Weak transcription	Osteobl	bone
19	chr8:100477400-100502200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:100478200-100507200	Weak transcription	NH-A	brain
21	chr8:100478600-100499800	Weak transcription	GM12878-XiMat	blood
22	chr8:100479400-100508000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:100479800-100504400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:100481000-100498400	Weak transcription	HepG2	liver
25	chr8:100481800-100504400	Weak transcription	Fetal Intestine Small	intestine
26	chr8:100487000-100512800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr8:100488000-100504400	Weak transcription	Gastric	stomach
28	chr8:100488400-100495800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr8:100489400-100498200	Weak transcription	HUVEC	blood vessel
30	chr8:100490200-100504400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr8:100490600-100506600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr8:100491200-100537000	Weak transcription	Placenta	Placenta
33	chr8:100492200-100498200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr8:100492200-100508000	Weak transcription	Right Ventricle	heart
35	chr8:100492400-100502400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr8:100492600-100499600	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr8:100493200-100510600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr8:100493400-100504400	Weak transcription	Fetal Stomach	stomach
39	chr8:100493400-100511000	Weak transcription	HSMMtube	muscle
40	chr8:100493600-100496200	Strong transcription	Primary B cells from cord blood	blood
41	chr8:100493600-100496200	Strong transcription	Adipose Nuclei	Adipose
42	chr8:100493600-100497400	Strong transcription	HSMM	muscle
43	chr8:100493800-100495600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr8:100493800-100495600	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr8:100493800-100495800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr8:100493800-100495800	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr8:100493800-100496000	Strong transcription	Primary T cells from cord blood	blood
48	chr8:100493800-100496000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr8:100493800-100496000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr8:100493800-100496000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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