Variant report

Variant	rs62253396
Chromosome Location	chr3:24033487-24033488
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:24033094..24034761-chr3:24035791..24038107,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10212572	1.00[EUR][1000 genomes]
rs62253385	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62253390	1.00[EUR][1000 genomes]
rs62253393	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62253394	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62253395	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6550832	1.00[EUR][1000 genomes]
rs6766081	1.00[EUR][1000 genomes]
rs7641207	1.00[EUR][1000 genomes]
rs9812887	1.00[EUR][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	nsv533980	chr3:23445901-24311972	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv834638	chr3:23963860-24117191	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats 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	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:24019400-24035400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr3:24019600-24040800	Weak transcription	NHLF	lung
3	chr3:24023200-24035000	Weak transcription	Right Atrium	heart
4	chr3:24023200-24035200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr3:24024000-24035200	Weak transcription	Left Ventricle	heart
6	chr3:24029000-24035000	Weak transcription	Lung	lung
7	chr3:24030800-24040400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:24032000-24033800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr3:24032000-24034800	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr3:24032200-24033600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr3:24032200-24034200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:24032200-24034200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:24032200-24034200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr3:24032200-24034200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr3:24032200-24034600	Enhancers	Stomach Smooth Muscle	stomach
16	chr3:24032200-24035800	Enhancers	Fetal Brain Female	brain
17	chr3:24032200-24036000	Enhancers	Brain Substantia Nigra	brain
18	chr3:24032200-24036200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr3:24032200-24036600	Enhancers	Fetal Stomach	stomach
20	chr3:24032400-24034600	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr3:24032600-24033600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr3:24032600-24034000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:24032600-24034600	Enhancers	HUVEC	blood vessel
24	chr3:24032600-24036000	Enhancers	Fetal Lung	lung
25	chr3:24032600-24036200	Enhancers	Rectal Smooth Muscle	rectum
26	chr3:24032800-24033800	Enhancers	Primary B cells from peripheral blood	blood
27	chr3:24032800-24033800	Enhancers	Fetal Muscle Leg	muscle
28	chr3:24032800-24034000	Enhancers	Fetal Thymus	thymus
29	chr3:24032800-24034200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr3:24032800-24034200	Enhancers	Primary T cells from cord blood	blood
31	chr3:24032800-24034200	Enhancers	Aorta	Aorta
32	chr3:24032800-24034200	Flanking Active TSS	Brain Anterior Caudate	brain
33	chr3:24032800-24034200	Enhancers	Dnd41	blood
34	chr3:24032800-24034200	Enhancers	NH-A	brain
35	chr3:24032800-24036400	Enhancers	Colon Smooth Muscle	Colon
36	chr3:24032800-24036800	Enhancers	Fetal Heart	heart
37	chr3:24033000-24033600	Enhancers	Primary B cells from cord blood	blood
38	chr3:24033000-24033800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr3:24033000-24033800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr3:24033000-24033800	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr3:24033000-24034200	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr3:24033000-24034200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr3:24033000-24034200	Flanking Active TSS	Brain Angular Gyrus	brain
44	chr3:24033000-24034200	Enhancers	Fetal Kidney	kidney
45	chr3:24033000-24034400	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr3:24033200-24033600	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr3:24033200-24033600	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr3:24033200-24033600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr3:24033200-24033600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr3:24033200-24033600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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