Variant report

Variant	rs4147599
Chromosome Location	chr1:165604991-165604992
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10737516	0.90[ASN][1000 genomes]
rs1878076	0.84[ASN][1000 genomes]
rs2018265	0.90[ASN][1000 genomes]
rs2348726	0.89[ASN][1000 genomes]
rs4147593	0.80[ASN][1000 genomes]
rs4147594	0.80[ASN][1000 genomes]
rs4147596	0.80[ASN][1000 genomes]
rs9333413	0.90[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	nsv548090	chr1:165602524-165604991	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4147599	MGST3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165601600-165605800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:165601600-165608400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:165601600-165615200	Weak transcription	Spleen	Spleen
4	chr1:165601800-165607400	Enhancers	Brain Substantia Nigra	brain
5	chr1:165601800-165615200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:165602000-165605600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr1:165602000-165622800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:165602200-165605000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr1:165602200-165605200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:165602200-165606000	Enhancers	Brain Anterior Caudate	brain
11	chr1:165602200-165624200	Weak transcription	Dnd41	blood
12	chr1:165602400-165605200	Enhancers	Fetal Lung	lung
13	chr1:165602400-165606000	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr1:165602400-165606800	Enhancers	Brain Angular Gyrus	brain
15	chr1:165602400-165614400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr1:165602400-165614800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr1:165602400-165615000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr1:165602600-165605000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr1:165602600-165605200	Enhancers	A549	lung
20	chr1:165602600-165605400	Weak transcription	Fetal Stomach	stomach
21	chr1:165602600-165605400	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr1:165602600-165605800	Enhancers	Right Ventricle	heart
23	chr1:165602600-165606000	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr1:165602600-165606200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:165602600-165606600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:165602600-165606600	Weak transcription	HepG2	liver
27	chr1:165602600-165610400	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr1:165602600-165615000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr1:165603000-165606600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:165603000-165607000	Weak transcription	Aorta	Aorta
31	chr1:165603000-165614800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr1:165603000-165619800	Weak transcription	HSMMtube	muscle
33	chr1:165603200-165605200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:165603200-165605200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:165603200-165605400	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr1:165603200-165607200	Enhancers	Brain Cingulate Gyrus	brain
37	chr1:165603200-165608000	Enhancers	Liver	Liver
38	chr1:165603400-165606600	Weak transcription	HUVEC	blood vessel
39	chr1:165603600-165605000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr1:165603600-165605000	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr1:165603600-165605000	Enhancers	Stomach Mucosa	stomach
42	chr1:165603600-165605000	Weak transcription	HSMM	muscle
43	chr1:165603600-165605000	Weak transcription	NH-A	brain
44	chr1:165603600-165605200	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr1:165603600-165605200	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr1:165603600-165605200	Enhancers	Stomach Smooth Muscle	stomach
47	chr1:165603600-165605400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:165603600-165605400	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr1:165603600-165606000	Weak transcription	Fetal Muscle Leg	muscle
50	chr1:165603600-165606000	Weak transcription	Right Atrium	heart

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