Variant report

Variant	rs6769520
Chromosome Location	chr3:143247356-143247357
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12107201	1.00[CEU][hapmap];0.96[CHB][hapmap];0.96[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12107992	1.00[CEU][hapmap];0.96[CHB][hapmap];0.96[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1405018	1.00[CHB][hapmap];0.88[JPT][hapmap];0.92[ASN][1000 genomes]
rs1525864	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16853716	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1837611	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3849196	0.95[CHB][hapmap];0.83[JPT][hapmap];0.92[ASN][1000 genomes]
rs58829294	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58992171	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7624412	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs838603	1.00[CEU][hapmap]
rs973826	1.00[CHB][hapmap];0.88[JPT][hapmap];0.93[ASN][1000 genomes]
rs9821051	0.95[CHB][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs9828276	0.96[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs9872790	0.95[CHB][hapmap];0.83[JPT][hapmap];0.90[ASN][1000 genomes]
rs9873052	0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs9873297	0.96[CHB][hapmap];0.96[JPT][hapmap];0.97[ASN][1000 genomes]
rs9883866	0.95[CHB][hapmap];0.83[JPT][hapmap];0.92[ASN][1000 genomes]
rs996017	1.00[CEU][hapmap];0.96[CHB][hapmap];0.96[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143212600-143247400	Weak transcription	Primary T cells from cord blood	blood
2	chr3:143223000-143256200	Weak transcription	Esophagus	oesophagus
3	chr3:143239200-143255200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr3:143241800-143251400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr3:143242000-143248000	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr3:143243600-143247400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr3:143244200-143247800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr3:143244200-143249000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr3:143244400-143249000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr3:143244800-143247400	Enhancers	Primary B cells from peripheral blood	blood
11	chr3:143245000-143247400	Enhancers	Primary B cells from cord blood	blood
12	chr3:143245200-143247400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr3:143245200-143247800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:143245200-143248800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr3:143245200-143254800	Weak transcription	NHLF	lung
16	chr3:143245200-143255600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr3:143245400-143247400	Weak transcription	Aorta	Aorta
18	chr3:143245400-143247600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr3:143245400-143247600	Weak transcription	Osteobl	bone
20	chr3:143245400-143247800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr3:143245400-143255600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr3:143245600-143255000	Weak transcription	NHDF-Ad	bronchial
23	chr3:143245600-143255800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr3:143245800-143247400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr3:143245800-143247400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr3:143245800-143247800	Weak transcription	HSMMtube	muscle
27	chr3:143245800-143254600	Weak transcription	Duodenum Mucosa	Duodenum
28	chr3:143246000-143247800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr3:143246200-143249000	Enhancers	Primary hematopoietic stem cells	blood
30	chr3:143246200-143249000	Enhancers	Adipose Nuclei	Adipose
31	chr3:143246400-143248000	Flanking Active TSS	Dnd41	blood
32	chr3:143246600-143247800	Weak transcription	Ovary	ovary
33	chr3:143246800-143251600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr3:143246800-143255400	Weak transcription	HSMM	muscle
35	chr3:143247000-143251800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr3:143247200-143247400	Enhancers	GM12878-XiMat	blood
37	chr3:143247200-143249000	Enhancers	Fetal Lung	lung

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