Variant report

Variant	rs2279936
Chromosome Location	chr3:69074930-69074931
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10865642	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11128107	0.88[CEU][hapmap];0.94[TSI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13063094	0.83[EUR][1000 genomes]
rs13084180	0.85[EUR][1000 genomes]
rs13085120	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13090606	1.00[CEU][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13099820	0.84[EUR][1000 genomes]
rs17005366	0.81[MKK][hapmap]
rs2009602	0.90[GIH][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs2271118	1.00[CEU][hapmap];0.97[GIH][hapmap];0.90[MEX][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2271120	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2271122	0.83[CEU][hapmap];0.92[GIH][hapmap];0.82[MEX][hapmap];0.92[TSI][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2292199	0.94[CEU][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35718539	0.82[EUR][1000 genomes]
rs3772977	0.95[ASN][1000 genomes]
rs3772979	0.92[GIH][hapmap];0.89[TSI][hapmap];0.80[EUR][1000 genomes]
rs3821562	0.82[EUR][1000 genomes]
rs3853157	0.90[GIH][hapmap];0.92[TSI][hapmap];0.81[EUR][1000 genomes]
rs56156415	0.80[EUR][1000 genomes]
rs58950441	0.82[EUR][1000 genomes]
rs6549162	0.86[EUR][1000 genomes]
rs6549163	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6549164	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6549165	0.81[CEU][hapmap];0.82[MEX][hapmap];0.94[TSI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6549167	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6549169	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6549181	0.88[CEU][hapmap];0.90[GIH][hapmap];0.82[MEX][hapmap];0.94[TSI][hapmap];0.81[EUR][1000 genomes]
rs6775065	0.82[EUR][1000 genomes]
rs6777032	0.82[EUR][1000 genomes]
rs6782474	0.86[GIH][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs6804833	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6807701	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs714300	0.82[EUR][1000 genomes]
rs7426798	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7430692	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7432824	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7434153	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7611878	0.88[CEU][hapmap];0.94[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7614090	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9813514	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs9826616	0.81[EUR][1000 genomes]
rs9853259	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9857898	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9873272	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876933	chr3:69059023-69227379	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2279936	MEX3B	trans	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69063400-69078200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:69063400-69078400	Weak transcription	Esophagus	oesophagus
3	chr3:69063400-69078600	Weak transcription	Pancreas	Pancrea
4	chr3:69063400-69078600	Weak transcription	Spleen	Spleen
5	chr3:69063400-69081800	Weak transcription	Gastric	stomach
6	chr3:69063400-69100200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr3:69063600-69075400	Weak transcription	Fetal Intestine Small	intestine
8	chr3:69063600-69080800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr3:69063600-69081200	Weak transcription	Small Intestine	intestine
10	chr3:69063800-69078800	Weak transcription	Stomach Mucosa	stomach
11	chr3:69064000-69075400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr3:69064000-69081800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr3:69064000-69098600	Weak transcription	Hela-S3	cervix
14	chr3:69064200-69078800	Weak transcription	Right Ventricle	heart
15	chr3:69064200-69082000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr3:69064800-69077200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr3:69065000-69079000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr3:69065000-69081400	Weak transcription	Aorta	Aorta
19	chr3:69065200-69076400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr3:69065200-69081000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr3:69065400-69080800	Strong transcription	Osteobl	bone
22	chr3:69065600-69080600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:69065800-69082000	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr3:69066000-69086400	Strong transcription	HSMM	muscle
25	chr3:69066000-69095800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr3:69066000-69096400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr3:69066400-69096800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr3:69066600-69078800	Weak transcription	A549	lung
29	chr3:69066600-69099000	Strong transcription	Placenta	Placenta
30	chr3:69067400-69098200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr3:69067600-69090800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr3:69069200-69099000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:69069400-69081200	Strong transcription	NH-A	brain
34	chr3:69069400-69097800	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr3:69070000-69076400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr3:69070000-69082400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr3:69070200-69075000	Strong transcription	NHDF-Ad	bronchial
38	chr3:69070200-69078000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr3:69070200-69081400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr3:69070200-69096400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr3:69070400-69082000	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr3:69070400-69098000	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr3:69070400-69098400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr3:69070600-69089600	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr3:69070600-69095800	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr3:69070600-69097800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr3:69071000-69090200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr3:69071000-69098400	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr3:69071000-69098600	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr3:69071200-69098200	Strong transcription	HUES64 Cell Line	embryonic stem cell

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