Variant report

Variant	rs73593728
Chromosome Location	chr8:58333692-58333693
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:58332845..58333756-chr8:59307075..59308444,4	K562	blood:
2	chr8:58332707..58333926-chr8:58403565..58404649,11	MCF-7	breast:
3	chr8:58256197..58257142-chr8:58333343..58333895,2	MCF-7	breast:
4	chr8:58332821..58333771-chr8:58403706..58404764,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253871	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs59819381	1.00[AFR][1000 genomes]
rs73591798	0.81[AFR][1000 genomes]
rs73591799	0.81[AFR][1000 genomes]
rs73593705	0.81[AFR][1000 genomes]
rs73593706	0.81[AFR][1000 genomes]
rs73593709	0.81[AFR][1000 genomes]
rs73593721	0.81[AFR][1000 genomes]
rs73593755	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758161	chr8:57930392-58474449	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv2759618	chr8:57930392-58474449	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv533217	chr8:57991065-58789001	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv890936	chr8:58266339-58564501	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv524390	chr8:58305969-58572471	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv518178	chr8:58328635-58542880	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58333200-58333800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr8:58333200-58333800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:58333200-58333800	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr8:58333200-58333800	Active TSS	Adipose Nuclei	Adipose
5	chr8:58333200-58333800	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr8:58333200-58333800	Active TSS	Ovary	ovary
7	chr8:58333200-58333800	Active TSS	Right Atrium	heart
8	chr8:58333200-58333800	Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr8:58333200-58333800	Active TSS	Stomach Smooth Muscle	stomach
10	chr8:58333200-58333800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr8:58333200-58334000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr8:58333400-58333800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:58333400-58333800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr8:58333400-58333800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr8:58333400-58333800	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr8:58333400-58333800	Enhancers	Primary hematopoietic stem cells	blood
17	chr8:58333400-58333800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:58333400-58333800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr8:58333400-58333800	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr8:58333400-58333800	Active TSS	Brain Angular Gyrus	brain
21	chr8:58333400-58333800	Flanking Active TSS	Brain Cingulate Gyrus	brain
22	chr8:58333400-58333800	Enhancers	Brain Hippocampus Middle	brain
23	chr8:58333400-58333800	Active TSS	Brain Substantia Nigra	brain
24	chr8:58333400-58333800	Active TSS	Rectal Smooth Muscle	rectum
25	chr8:58333400-58333800	Active TSS	HMEC	breast
26	chr8:58333400-58333800	Enhancers	HSMMtube	muscle
27	chr8:58333400-58333800	Flanking Active TSS	NHDF-Ad	bronchial
28	chr8:58333400-58334000	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr8:58333400-58334000	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr8:58333400-58334000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:58333400-58334000	Enhancers	Fetal Brain Male	brain
32	chr8:58333400-58334000	Enhancers	Fetal Stomach	stomach
33	chr8:58333400-58334000	Enhancers	HSMM	muscle
34	chr8:58333400-58334200	Enhancers	Primary B cells from peripheral blood	blood
35	chr8:58333400-58334400	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr8:58333400-58334400	Enhancers	Liver	Liver
37	chr8:58333600-58333800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr8:58333600-58333800	Enhancers	Colon Smooth Muscle	Colon
39	chr8:58333600-58333800	Flanking Active TSS	Fetal Muscle Leg	muscle
40	chr8:58333600-58333800	Flanking Active TSS	NHEK	skin
41	chr8:58333600-58333800	Bivalent/Poised TSS	Osteobl	bone
42	chr8:58333600-58334000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr8:58333600-58334000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr8:58333600-58334000	Enhancers	Brain Anterior Caudate	brain
45	chr8:58333600-58334000	Enhancers	Fetal Kidney	kidney
46	chr8:58333600-58334000	Flanking Active TSS	GM12878-XiMat	blood
47	chr8:58333600-58334400	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr8:58333600-58337800	Weak transcription	Fetal Heart	heart

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