Variant report

Variant	rs62253395
Chromosome Location	chr3:24032300-24032301
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	chr3:24025902..24028777-chr3:24030624..24032378,2	K562	blood:
2	chr3:24030711..24032570-chr3:24036287..24038939,2	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]
rs62253396	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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23989200-24033200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr3:24005600-24032800	Weak transcription	NH-A	brain
3	chr3:24018200-24033200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr3:24018400-24032400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr3:24019400-24032800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr3:24019400-24032800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr3:24019400-24032800	Weak transcription	Primary T cells from cord blood	blood
8	chr3:24019400-24032800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr3:24019400-24033200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr3:24019400-24035400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr3:24019600-24040800	Weak transcription	NHLF	lung
12	chr3:24020200-24032800	Weak transcription	Primary B cells from peripheral blood	blood
13	chr3:24021400-24032600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr3:24021400-24032800	Weak transcription	Fetal Heart	heart
15	chr3:24021600-24033200	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr3:24021800-24033200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:24021800-24033400	Weak transcription	NHDF-Ad	bronchial
18	chr3:24023200-24035000	Weak transcription	Right Atrium	heart
19	chr3:24023200-24035200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr3:24023400-24033200	Weak transcription	Adipose Nuclei	Adipose
21	chr3:24023600-24033400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:24024000-24033200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr3:24024000-24035200	Weak transcription	Left Ventricle	heart
24	chr3:24025400-24033000	Weak transcription	Primary B cells from cord blood	blood
25	chr3:24029000-24035000	Weak transcription	Lung	lung
26	chr3:24029200-24032600	Weak transcription	HUVEC	blood vessel
27	chr3:24029800-24033200	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr3:24030800-24040400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr3:24031800-24033000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr3:24032000-24032800	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr3:24032000-24032800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr3:24032000-24033200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr3:24032000-24033200	Enhancers	Fetal Brain Male	brain
34	chr3:24032000-24033400	Enhancers	Primary hematopoietic stem cells	blood
35	chr3:24032000-24033400	Enhancers	Brain Cingulate Gyrus	brain
36	chr3:24032000-24033800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr3:24032000-24034800	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr3:24032200-24032800	Enhancers	Brain Anterior Caudate	brain
39	chr3:24032200-24032800	Enhancers	Brain Hippocampus Middle	brain
40	chr3:24032200-24032800	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr3:24032200-24033000	Enhancers	Brain Angular Gyrus	brain
42	chr3:24032200-24033200	Enhancers	Brain Germinal Matrix	brain
43	chr3:24032200-24033600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr3:24032200-24034200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr3:24032200-24034200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr3:24032200-24034200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr3:24032200-24034200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr3:24032200-24034600	Enhancers	Stomach Smooth Muscle	stomach
49	chr3:24032200-24035800	Enhancers	Fetal Brain Female	brain
50	chr3:24032200-24036000	Enhancers	Brain Substantia Nigra	brain

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