Variant report

Variant	rs12233414
Chromosome Location	chr3:43147181-43147182
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:43142624..43144798-chr3:43145061..43147327,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1949582	0.85[YRI][hapmap]
rs4682870	0.85[YRI][hapmap]
rs503100	0.84[LWK][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs520446	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs574785	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs679550	0.82[AFR][1000 genomes];0.81[AMR][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	nsv460522	chr3:42967597-43175207	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv590149	chr3:42967597-43175207	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv834672	chr3:43132722-43306272	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs12233414	UBASH3B	trans	lymphoblastoid	seeQTL
rs12233414	ALDH5A1	trans	lymphoblastoid	seeQTL
rs12233414	OSBPL10	trans	lymphoblastoid	seeQTL
rs12233414	IL6R	trans	lymphoblastoid	seeQTL
rs12233414	TSPAN1	trans	lymphoblastoid	seeQTL
rs12233414	PTK2	trans	lymphoblastoid	seeQTL
rs12233414	ETHE1	trans	lymphoblastoid	seeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43145800-43147800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:43146000-43147200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr3:43146200-43147800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr3:43146200-43148000	Active TSS	HSMMtube	muscle
5	chr3:43146400-43147200	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr3:43146400-43147800	Active TSS	Fetal Kidney	kidney
7	chr3:43146400-43147800	Active TSS	Rectal Mucosa Donor 31	rectum
8	chr3:43146400-43147800	Active TSS	HSMM	muscle
9	chr3:43146400-43147800	Active TSS	NH-A	brain
10	chr3:43146400-43148000	Active TSS	H9 Cell Line	embryonic stem cell
11	chr3:43146400-43148200	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr3:43146600-43147200	Enhancers	HUVEC	blood vessel
13	chr3:43146600-43147400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr3:43146600-43147400	Flanking Active TSS	Placenta	Placenta
15	chr3:43146600-43147600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:43146600-43147600	Bivalent/Poised TSS	GM12878-XiMat	blood
17	chr3:43146600-43147800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr3:43146600-43147800	Active TSS	Aorta	Aorta
19	chr3:43146600-43147800	Active TSS	Colonic Mucosa	Colon
20	chr3:43146600-43147800	Active TSS	NHDF-Ad	bronchial
21	chr3:43146600-43148000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr3:43146600-43148000	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr3:43146600-43148000	Enhancers	Placenta Amnion	Placenta Amnion
24	chr3:43146600-43148200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
25	chr3:43146600-43148200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
26	chr3:43146600-43148200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr3:43146600-43148200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr3:43146600-43148200	Active TSS	Rectal Smooth Muscle	rectum
29	chr3:43146600-43148200	Active TSS	A549	lung
30	chr3:43146800-43147200	Enhancers	Primary hematopoietic stem cells	blood
31	chr3:43146800-43147200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
32	chr3:43146800-43147200	Enhancers	Fetal Brain Male	brain
33	chr3:43146800-43147200	Enhancers	Spleen	Spleen
34	chr3:43146800-43147600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:43146800-43147600	Active TSS	Osteobl	bone
36	chr3:43146800-43147800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr3:43146800-43147800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr3:43146800-43147800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr3:43146800-43147800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
40	chr3:43146800-43147800	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr3:43146800-43147800	Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr3:43146800-43147800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:43146800-43147800	Active TSS	Muscle Satellite Cultured Cells	--
44	chr3:43146800-43147800	Active TSS	Brain Angular Gyrus	brain
45	chr3:43146800-43147800	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr3:43146800-43147800	Active TSS	Colon Smooth Muscle	Colon
47	chr3:43146800-43147800	Active TSS	Fetal Brain Female	brain
48	chr3:43146800-43147800	Weak transcription	Fetal Heart	heart
49	chr3:43146800-43147800	Active TSS	Fetal Lung	lung
50	chr3:43146800-43147800	Active TSS	Left Ventricle	heart

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