Variant report

Variant	rs6734880
Chromosome Location	chr2:172389261-172389262
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs13018808	0.81[ASN][1000 genomes]
rs13020413	0.83[ASN][1000 genomes]
rs13403066	0.83[ASN][1000 genomes]
rs13406134	0.83[ASN][1000 genomes]
rs2542933	0.81[ASN][1000 genomes]
rs2542938	0.83[ASN][1000 genomes]
rs2674485	0.83[ASN][1000 genomes]
rs34186168	0.83[ASN][1000 genomes]
rs35380972	0.83[ASN][1000 genomes]
rs58126733	0.83[ASN][1000 genomes]
rs6730957	0.83[ASN][1000 genomes]
rs6759240	0.83[ASN][1000 genomes]
rs7585194	0.83[ASN][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	esv1832950	chr2:172283513-172488111	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6734880	PDK1	cis	brain	BrainEAC

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172381000-172394800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:172381000-172397800	Weak transcription	Gastric	stomach
3	chr2:172381000-172397800	Weak transcription	Left Ventricle	heart
4	chr2:172381000-172410400	Weak transcription	Fetal Thymus	thymus
5	chr2:172381200-172404400	Weak transcription	Right Atrium	heart
6	chr2:172381200-172407200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:172381200-172410400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:172381400-172397600	Weak transcription	Brain Anterior Caudate	brain
9	chr2:172381400-172405400	Weak transcription	Fetal Heart	heart
10	chr2:172382000-172397800	Weak transcription	Fetal Stomach	stomach
11	chr2:172382000-172399000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:172382400-172397800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr2:172386400-172397800	Weak transcription	Aorta	Aorta
14	chr2:172386400-172419800	Weak transcription	Lung	lung
15	chr2:172386600-172391200	Weak transcription	Fetal Kidney	kidney
16	chr2:172386600-172397600	Weak transcription	Fetal Lung	lung
17	chr2:172386600-172397800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr2:172386800-172397600	Weak transcription	Fetal Muscle Leg	muscle
19	chr2:172386800-172400600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:172387200-172397800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:172387200-172413800	Weak transcription	Spleen	Spleen
22	chr2:172387400-172390800	Weak transcription	Ovary	ovary
23	chr2:172387400-172398000	Weak transcription	NHEK	skin
24	chr2:172387800-172397800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:172388000-172411400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr2:172388200-172390000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr2:172388200-172392000	Weak transcription	K562	blood
28	chr2:172388200-172411000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr2:172388400-172411800	Weak transcription	Brain Substantia Nigra	brain
30	chr2:172388600-172389800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr2:172388600-172397800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:172388600-172412400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr2:172388800-172390600	Weak transcription	HSMMtube	muscle
34	chr2:172388800-172397600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:172388800-172397800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr2:172388800-172397800	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr2:172388800-172398000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr2:172388800-172398600	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr2:172388800-172399200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr2:172388800-172403200	Weak transcription	Small Intestine	intestine
41	chr2:172388800-172407400	Weak transcription	HSMM	muscle
42	chr2:172388800-172410400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr2:172388800-172411000	Weak transcription	Brain Hippocampus Middle	brain
44	chr2:172388800-172413800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr2:172388800-172413800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:172388800-172414800	Weak transcription	Brain Angular Gyrus	brain
47	chr2:172388800-172414800	Weak transcription	Brain Cingulate Gyrus	brain
48	chr2:172389000-172389400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:172389000-172389400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:172389000-172389800	Weak transcription	GM12878-XiMat	blood

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