Variant report

Variant	rs16897701
Chromosome Location	chr8:100811120-100811121
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs11984855	0.82[EUR][1000 genomes]
rs11987013	0.88[EUR][1000 genomes]
rs11987034	0.88[EUR][1000 genomes]
rs11992778	0.88[EUR][1000 genomes]
rs11996543	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1349244	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1349245	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1449786	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1449790	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1449791	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16897488	0.88[EUR][1000 genomes]
rs16897504	0.85[EUR][1000 genomes]
rs16897573	1.00[CHB][hapmap];0.91[CHD][hapmap]
rs16897656	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897662	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897666	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897685	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897702	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897708	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897713	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897728	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17331148	1.00[EUR][1000 genomes]
rs1979115	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][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[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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[EUR][1000 genomes]
rs2084554	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2084555	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2100220	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2122341	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2167101	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28372694	0.82[EUR][1000 genomes]
rs2871953	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28847009	0.88[EUR][1000 genomes]
rs4288349	0.88[EUR][1000 genomes]
rs4342557	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4531021	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734434	0.88[EUR][1000 genomes]
rs4734435	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4734436	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4734437	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734438	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734439	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735616	0.88[EUR][1000 genomes]
rs4735622	0.88[EUR][1000 genomes]
rs4735623	0.88[EUR][1000 genomes]
rs4735624	0.88[EUR][1000 genomes]
rs4735631	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4735632	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4735634	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4735635	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4735636	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4735637	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735638	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735639	0.90[ASN][1000 genomes]
rs4735642	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735644	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735645	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735646	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56912854	1.00[AMR][1000 genomes]
rs57753543	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61753724	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7003135	0.97[EUR][1000 genomes]
rs73271394	0.94[EUR][1000 genomes]
rs73273207	0.97[EUR][1000 genomes]
rs7387462	0.88[EUR][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];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7841162	0.82[EUR][1000 genomes]
rs921313	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv1033944	chr8:100737321-100916345	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv1830910	chr8:100791156-101114794	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16897701	PLAUR	trans	lymphoblastoid	seeQTL

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100766200-100815600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr8:100772400-100824400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr8:100775000-100822400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr8:100778400-100857800	Weak transcription	Spleen	Spleen
5	chr8:100780400-100816400	Weak transcription	Lung	lung
6	chr8:100783200-100841000	Weak transcription	Right Ventricle	heart
7	chr8:100783200-100858200	Weak transcription	Gastric	stomach
8	chr8:100783400-100857200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr8:100787600-100812200	Weak transcription	Fetal Thymus	thymus
10	chr8:100787800-100831600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:100789600-100842400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:100791400-100861600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr8:100791600-100812600	Weak transcription	Brain Anterior Caudate	brain
14	chr8:100797000-100816400	Weak transcription	Esophagus	oesophagus
15	chr8:100797200-100824400	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr8:100797400-100821600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr8:100797600-100829800	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr8:100798200-100822200	Weak transcription	Primary B cells from peripheral blood	blood
19	chr8:100798400-100816400	Weak transcription	Pancreas	Pancrea
20	chr8:100798400-100823400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr8:100798400-100846400	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr8:100799400-100811400	Weak transcription	Ovary	ovary
23	chr8:100799400-100816400	Weak transcription	Left Ventricle	heart
24	chr8:100799400-100822000	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr8:100799600-100822000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr8:100799600-100829400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr8:100801200-100825000	Weak transcription	Fetal Intestine Large	intestine
28	chr8:100802000-100836400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr8:100803400-100824600	Weak transcription	Dnd41	blood
30	chr8:100803800-100829400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr8:100804200-100821600	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr8:100804200-100832000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr8:100805000-100816600	Weak transcription	Fetal Intestine Small	intestine
34	chr8:100805000-100832000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr8:100805200-100822000	Weak transcription	Thymus	Thymus
36	chr8:100807000-100811200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:100807000-100811200	Weak transcription	NHEK	skin
38	chr8:100807200-100824600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr8:100807200-100857200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:100807400-100847800	Weak transcription	Liver	Liver
41	chr8:100807600-100816400	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr8:100807600-100825400	Weak transcription	HepG2	liver
43	chr8:100808000-100817600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:100808200-100811200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr8:100808200-100815200	Weak transcription	K562	blood
46	chr8:100808200-100818200	Weak transcription	Psoas Muscle	Psoas
47	chr8:100808400-100829800	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr8:100809400-100820800	Weak transcription	Primary T cells from cord blood	blood
49	chr8:100809400-100822600	Weak transcription	Primary B cells from cord blood	blood
50	chr8:100809400-100839200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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