Variant report

Variant	rs58279301
Chromosome Location	chr3:43564817-43564818
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:43538412..43541207-chr3:43562401..43564884,2	K562	blood:
2	chr3:43563944..43566143-chr3:43566195..43569715,3	K562	blood:
3	chr3:43559073..43563510-chr3:43563874..43567670,4	K562	blood:
4	chr3:43564591..43567435-chr3:43603511..43605343,2	K562	blood:
5	chr3:43562365..43565525-chr3:43571764..43575100,3	K562	blood:
6	chr3:43563932..43566696-chr3:43730705..43732657,2	K562	blood:

Variant related genes	Relation type
ENSG00000160746	Chromatin interaction
ENSG00000011198	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs55857234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56227610	1.00[AMR][1000 genomes]
rs6793449	1.00[AMR][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	nsv428738	chr3:43491435-43651168	Strong transcription Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	esv2763720	chr3:43551038-43575884	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43539200-43575000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr3:43540000-43582000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr3:43540200-43602200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr3:43542800-43588800	Weak transcription	Left Ventricle	heart
5	chr3:43544000-43617600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr3:43547200-43567200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr3:43547600-43595800	Weak transcription	Fetal Stomach	stomach
8	chr3:43551000-43577800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr3:43553000-43601600	Weak transcription	Colon Smooth Muscle	Colon
10	chr3:43553600-43595800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr3:43554000-43579000	Weak transcription	Fetal Brain Male	brain
12	chr3:43554800-43565200	Weak transcription	NHDF-Ad	bronchial
13	chr3:43554800-43565400	Weak transcription	NHLF	lung
14	chr3:43554800-43573400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr3:43554800-43589400	Weak transcription	HSMMtube	muscle
16	chr3:43555400-43567800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr3:43556200-43624800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr3:43557000-43577200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr3:43558600-43625600	Weak transcription	Lung	lung
20	chr3:43559400-43565000	Weak transcription	Aorta	Aorta
21	chr3:43559600-43568400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr3:43559600-43569200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr3:43560800-43568400	Weak transcription	Colonic Mucosa	Colon
24	chr3:43560800-43618000	Weak transcription	Brain Hippocampus Middle	brain
25	chr3:43561000-43567600	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr3:43561200-43565000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr3:43561200-43565000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr3:43561200-43601200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr3:43561400-43600400	Weak transcription	Stomach Smooth Muscle	stomach
30	chr3:43561600-43566400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr3:43561600-43569400	Weak transcription	Adipose Nuclei	Adipose
32	chr3:43561600-43570400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr3:43561600-43588800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr3:43561600-43589000	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr3:43561600-43590600	Weak transcription	Ovary	ovary
36	chr3:43561600-43601000	Weak transcription	Pancreas	Pancrea
37	chr3:43561800-43568000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr3:43561800-43569200	Weak transcription	Primary T cells from cord blood	blood
39	chr3:43561800-43570200	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr3:43561800-43590600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr3:43561800-43602000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr3:43562000-43568400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr3:43562000-43575800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr3:43562000-43589200	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr3:43562400-43565400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr3:43563000-43569000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr3:43563000-43569400	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr3:43563200-43580000	Weak transcription	HSMM	muscle
49	chr3:43563400-43568200	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr3:43563400-43569800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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