Variant report

Variant	rs4734438
Chromosome Location	chr8:100760451-100760452
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	chr8:100740367..100742252-chr8:100758322..100760829,2	K562	blood:

Extended variants
information (count: 86 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10504990	0.88[EUR][1000 genomes]
rs10504991	0.88[EUR][1000 genomes]
rs10504992	0.88[EUR][1000 genomes]
rs11984855	0.82[EUR][1000 genomes]
rs11987013	0.88[EUR][1000 genomes]
rs11987034	0.88[EUR][1000 genomes]
rs11989649	0.85[EUR][1000 genomes]
rs11992778	0.88[EUR][1000 genomes]
rs11994623	0.88[EUR][1000 genomes]
rs11996543	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1349244	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1349245	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1449786	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1449790	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1449791	0.94[EUR][1000 genomes]
rs1552443	0.88[EUR][1000 genomes]
rs16897410	0.88[EUR][1000 genomes]
rs16897439	0.88[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	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897662	0.84[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	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897701	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897702	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897708	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897713	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[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];0.94[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];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.94[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];0.94[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];0.80[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	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2084555	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2100220	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2122341	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2167101	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28372694	0.82[EUR][1000 genomes]
rs2871953	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28847009	0.88[EUR][1000 genomes]
rs4288349	0.88[EUR][1000 genomes]
rs4342557	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4531021	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734434	0.88[EUR][1000 genomes]
rs4734435	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4734436	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4734437	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734439	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734440	0.82[AMR][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	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4735632	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4735634	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4735635	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4735636	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4735637	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735638	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735639	0.90[ASN][1000 genomes]
rs4735642	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735644	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735645	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735646	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56912854	0.94[AMR][1000 genomes]
rs57753543	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61753724	0.89[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]
rs7832916	0.88[EUR][1000 genomes]
rs7833256	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];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7841162	0.82[EUR][1000 genomes]
rs921313	0.80[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	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
6	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4734438	PLAUR	trans	lymphoblastoid	seeQTL

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100710200-100785000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:100725600-100779800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:100727000-100779000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr8:100728400-100765600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr8:100734200-100779200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr8:100734600-100761600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr8:100734600-100767200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:100734600-100796600	Weak transcription	Pancreas	Pancrea
9	chr8:100737800-100766000	Weak transcription	Thymus	Thymus
10	chr8:100737800-100779000	Weak transcription	Left Ventricle	heart
11	chr8:100740600-100767400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:100742400-100767200	Weak transcription	Fetal Muscle Leg	muscle
13	chr8:100744800-100767400	Weak transcription	Aorta	Aorta
14	chr8:100745000-100767200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr8:100746000-100764000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr8:100750400-100763800	Weak transcription	Primary B cells from cord blood	blood
17	chr8:100751000-100765800	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr8:100751200-100761600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:100751200-100767200	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr8:100751600-100767200	Weak transcription	Fetal Intestine Large	intestine
21	chr8:100752000-100769600	Weak transcription	Fetal Stomach	stomach
22	chr8:100759400-100762800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:100760000-100761000	Enhancers	Fetal Lung	lung

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