Variant report

Variant	rs9818164
Chromosome Location	chr3:143248447-143248448
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs13079678	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13324297	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13325345	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17640527	1.00[CEU][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2049503	1.00[CEU][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2165358	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28518169	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28679565	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35544617	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4839599	1.00[CEU][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67623556	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6767943	0.88[CEU][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6768475	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6771449	0.88[CEU][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6792226	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6792609	0.88[CEU][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7636473	0.88[CEU][hapmap];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9289665	0.88[CEU][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs940636	0.95[CEU][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs940637	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9817782	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9818142	1.00[CEU][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9819535	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9828276	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs9829438	0.92[CEU][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9842574	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9844522	0.91[CEU][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9844871	0.88[CEU][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9849487	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9857113	0.88[CEU][hapmap];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9857250	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9859560	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9863900	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9864019	0.88[CEU][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9873052	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs9873297	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs9873331	1.00[CEU][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9874109	0.91[CEU][hapmap];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9875821	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9882547	0.88[CEU][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	esv2757894	chr3:142992697-143285979	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2759184	chr3:142992697-143285979	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143223000-143256200	Weak transcription	Esophagus	oesophagus
2	chr3:143239200-143255200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr3:143241800-143251400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr3:143244200-143249000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr3:143244400-143249000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr3:143245200-143248800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr3:143245200-143254800	Weak transcription	NHLF	lung
8	chr3:143245200-143255600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:143245400-143255600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr3:143245600-143255000	Weak transcription	NHDF-Ad	bronchial
11	chr3:143245600-143255800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr3:143245800-143254600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr3:143246200-143249000	Enhancers	Primary hematopoietic stem cells	blood
14	chr3:143246200-143249000	Enhancers	Adipose Nuclei	Adipose
15	chr3:143246800-143251600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr3:143246800-143255400	Weak transcription	HSMM	muscle
17	chr3:143247000-143251800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr3:143247200-143249000	Enhancers	Fetal Lung	lung
19	chr3:143247400-143248600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr3:143247400-143249000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr3:143247800-143249000	Enhancers	HSMMtube	muscle
22	chr3:143247800-143249400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr3:143248000-143248800	Weak transcription	Lung	lung
24	chr3:143248000-143248800	Weak transcription	Ovary	ovary
25	chr3:143248000-143249000	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr3:143248000-143249000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr3:143248000-143250800	Enhancers	Dnd41	blood
28	chr3:143248000-143255600	Weak transcription	Brain Substantia Nigra	brain
29	chr3:143248200-143248600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr3:143248200-143248800	Enhancers	Osteobl	bone
31	chr3:143248200-143249000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr3:143248200-143251200	Enhancers	Primary B cells from peripheral blood	blood
33	chr3:143248200-143251400	Enhancers	Primary B cells from cord blood	blood
34	chr3:143248200-143255800	Weak transcription	Aorta	Aorta
35	chr3:143248400-143249000	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr3:143248400-143249200	Enhancers	GM12878-XiMat	blood
37	chr3:143248400-143249400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr3:143248400-143255000	Weak transcription	Fetal Stomach	stomach
39	chr3:143248400-143261000	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr3:143248400-143263800	Weak transcription	Primary T cells from cord blood	blood
41	chr3:143248400-143276800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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