Variant report

Variant	rs60351358
Chromosome Location	chr3:52698992-52698993
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	chr3:52697891..52699504-chr3:52702797..52704715,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs17052269	1.00[AMR][1000 genomes]
rs17052322	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17052355	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17052424	0.91[AFR][1000 genomes]
rs1971811	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41415947	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56815357	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57401769	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57440640	1.00[AMR][1000 genomes]
rs57607481	0.94[AFR][1000 genomes]
rs57931767	0.91[AFR][1000 genomes]
rs58242587	1.00[AMR][1000 genomes]
rs59182119	0.81[AFR][1000 genomes]
rs59789322	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60404983	1.00[AMR][1000 genomes]
rs60832323	1.00[AMR][1000 genomes]
rs61484330	1.00[AMR][1000 genomes]
rs6767229	0.97[AFR][1000 genomes]
rs6779626	1.00[AFR][1000 genomes]
rs6796577	0.94[AFR][1000 genomes]
rs6803865	0.97[AFR][1000 genomes]
rs6809065	0.94[AFR][1000 genomes]
rs7615320	0.88[AFR][1000 genomes]
rs7616059	0.98[AFR][1000 genomes]
rs7649820	1.00[AFR][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	nsv984563	chr3:52516115-52867075	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52587200-52719200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:52592200-52719200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:52636000-52703800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr3:52636000-52704000	Strong transcription	Placenta	Placenta
5	chr3:52636200-52703200	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr3:52636800-52703600	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr3:52637200-52715800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:52642600-52711200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr3:52650000-52712200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr3:52655200-52716400	Strong transcription	Fetal Thymus	thymus
11	chr3:52655800-52704000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr3:52656600-52704600	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr3:52658000-52702800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr3:52660800-52704800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr3:52664600-52701600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:52665400-52719200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr3:52666200-52702400	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr3:52670400-52704600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr3:52670800-52715400	Strong transcription	Dnd41	blood
20	chr3:52671000-52700800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr3:52671000-52701000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr3:52673200-52702600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr3:52681000-52702000	Strong transcription	Primary T cells from cord blood	blood
24	chr3:52681200-52702400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr3:52681200-52702400	Strong transcription	Fetal Intestine Large	intestine
26	chr3:52681200-52702400	Strong transcription	Fetal Muscle Leg	muscle
27	chr3:52681200-52716200	Strong transcription	Fetal Muscle Trunk	muscle
28	chr3:52682200-52702600	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr3:52683600-52702600	Strong transcription	Adipose Nuclei	Adipose
30	chr3:52683800-52702400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr3:52684800-52709000	Weak transcription	Stomach Mucosa	stomach
32	chr3:52685000-52701600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr3:52685200-52702600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr3:52685400-52702400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr3:52686400-52702400	Strong transcription	Thymus	Thymus
36	chr3:52687800-52699800	Strong transcription	Left Ventricle	heart
37	chr3:52688000-52702400	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr3:52688000-52714800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr3:52688200-52701200	Strong transcription	Colon Smooth Muscle	Colon
40	chr3:52689000-52704600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr3:52690200-52704600	Weak transcription	Fetal Heart	heart
42	chr3:52690400-52702400	Strong transcription	Fetal Intestine Small	intestine
43	chr3:52690400-52702400	Strong transcription	Fetal Stomach	stomach
44	chr3:52691400-52701200	Strong transcription	Placenta Amnion	Placenta Amnion
45	chr3:52692600-52699600	Strong transcription	GM12878-XiMat	blood
46	chr3:52692800-52702600	Strong transcription	Fetal Brain Female	brain
47	chr3:52693600-52701000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr3:52693800-52709400	Weak transcription	Right Ventricle	heart
49	chr3:52694000-52699400	Weak transcription	Small Intestine	intestine
50	chr3:52695200-52705800	Weak transcription	Pancreas	Pancrea

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