Variant report

Variant	rs10504991
Chromosome Location	chr8:100511283-100511284
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 107 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:92)

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	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10504992	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][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	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11987034	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11988133	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	0.96[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	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16897255	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[ASN][1000 genomes]
rs16897302	0.86[ASN][1000 genomes]
rs16897325	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.81[LWK][hapmap];0.91[ASN][1000 genomes]
rs16897326	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.89[LWK][hapmap];0.86[MKK][hapmap];0.91[ASN][1000 genomes]
rs16897410	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16897439	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];1.00[MEX][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]
rs16897656	0.88[EUR][1000 genomes]
rs16897662	0.88[EUR][1000 genomes]
rs16897666	0.88[EUR][1000 genomes]
rs2067529	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]
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]
rs4734438	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]
rs4735642	0.85[EUR][1000 genomes]
rs4735644	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	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7833256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];1.00[MEX][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:15 , 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	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
rs10504991	PLAUR	trans	lymphoblastoid	seeQTL

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100473400-100526000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr8:100474400-100515400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:100487000-100512800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr8:100491200-100537000	Weak transcription	Placenta	Placenta
5	chr8:100494000-100516600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr8:100494600-100511800	Weak transcription	Brain Substantia Nigra	brain
7	chr8:100495200-100532600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:100496400-100537200	Weak transcription	Brain Hippocampus Middle	brain
9	chr8:100499400-100535200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr8:100503800-100536600	Weak transcription	Fetal Muscle Leg	muscle
11	chr8:100505000-100534800	Weak transcription	Fetal Intestine Large	intestine
12	chr8:100505200-100511400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:100505200-100515800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr8:100505200-100525000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr8:100505200-100532400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr8:100506000-100535400	Weak transcription	Fetal Stomach	stomach
17	chr8:100508400-100511400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr8:100508400-100516200	Weak transcription	Left Ventricle	heart
19	chr8:100508400-100535400	Weak transcription	Aorta	Aorta
20	chr8:100508400-100535400	Weak transcription	Right Ventricle	heart
21	chr8:100508400-100535600	Weak transcription	Pancreas	Pancrea
22	chr8:100508400-100538400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:100508400-100574000	Weak transcription	Gastric	stomach
24	chr8:100509800-100512000	Enhancers	NHLF	lung
25	chr8:100509800-100512200	Enhancers	NH-A	brain
26	chr8:100509800-100512400	Enhancers	Muscle Satellite Cultured Cells	--
27	chr8:100510000-100511400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr8:100510000-100511400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:100510400-100511600	Enhancers	Osteobl	bone
30	chr8:100510400-100511800	Enhancers	NHDF-Ad	bronchial
31	chr8:100510400-100512600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:100510600-100511600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr8:100510600-100512000	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr8:100510800-100511400	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr8:100510800-100511400	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr8:100510800-100511400	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr8:100510800-100511600	Enhancers	Rectal Smooth Muscle	rectum
38	chr8:100510800-100511600	Flanking Active TSS	A549	lung
39	chr8:100510800-100511800	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr8:100510800-100511800	Flanking Active TSS	GM12878-XiMat	blood
41	chr8:100510800-100511800	Enhancers	HSMM	muscle
42	chr8:100510800-100511800	Enhancers	NHEK	skin
43	chr8:100510800-100512400	Enhancers	Primary B cells from peripheral blood	blood
44	chr8:100510800-100512600	Enhancers	Primary T cells from cord blood	blood
45	chr8:100510800-100512600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr8:100511000-100511400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr8:100511000-100511400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr8:100511000-100511400	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr8:100511000-100511400	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr8:100511000-100511400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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