Variant report

Variant	rs34490534
Chromosome Location	chr2:100616060-100616061
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:100615299..100618134-chr2:100624767..100626661,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10202379	0.95[ASN][1000 genomes]
rs13023088	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13032879	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56909870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60473748	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34490534	EIF5B	cis	cerebellar cortex	BrainEAC

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100550800-100618200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:100563200-100625400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:100564800-100617000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:100577400-100618200	Weak transcription	Aorta	Aorta
5	chr2:100577800-100623000	Weak transcription	Adipose Nuclei	Adipose
6	chr2:100577800-100623000	Weak transcription	Brain Angular Gyrus	brain
7	chr2:100578000-100616200	Weak transcription	Fetal Thymus	thymus
8	chr2:100587400-100623000	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr2:100587400-100623000	Weak transcription	Spleen	Spleen
10	chr2:100590400-100618000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:100592600-100626400	Weak transcription	NH-A	brain
12	chr2:100594600-100623000	Weak transcription	Gastric	stomach
13	chr2:100598600-100623000	Weak transcription	Lung	lung
14	chr2:100600400-100616800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:100605200-100627200	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr2:100605400-100623000	Weak transcription	Ovary	ovary
17	chr2:100605400-100627800	Weak transcription	Right Ventricle	heart
18	chr2:100607400-100623000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:100607800-100622800	Weak transcription	Brain Germinal Matrix	brain
20	chr2:100610800-100625800	Strong transcription	Primary B cells from peripheral blood	blood
21	chr2:100612000-100634200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr2:100613200-100626200	Strong transcription	Primary B cells from cord blood	blood
23	chr2:100613400-100618800	Strong transcription	Primary hematopoietic stem cells	blood
24	chr2:100614200-100616200	Enhancers	Fetal Brain Female	brain
25	chr2:100614400-100616800	Weak transcription	Dnd41	blood
26	chr2:100614400-100625600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr2:100614600-100620600	Enhancers	Fetal Brain Male	brain
28	chr2:100614800-100616400	Enhancers	Fetal Muscle Trunk	muscle
29	chr2:100614800-100623400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr2:100615000-100616200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:100615000-100616600	Enhancers	Fetal Kidney	kidney
32	chr2:100615000-100623000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr2:100615000-100623000	Weak transcription	Thymus	Thymus
34	chr2:100615200-100616400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:100615600-100617400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:100615600-100618200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:100615600-100621200	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr2:100615600-100626600	Strong transcription	Primary T cells from cord blood	blood
39	chr2:100615600-100638400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr2:100615800-100617200	Weak transcription	Fetal Stomach	stomach
41	chr2:100616000-100623000	Weak transcription	Fetal Lung	lung
42	chr2:100616000-100623000	Weak transcription	Osteobl	bone

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