Variant report

Variant	rs28603007
Chromosome Location	chr8:58981909-58981910
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr8:58981750-58984308	SK-N-SH	brain:	n/a	n/a
2	RFX5	chr8:58981611-58984340	SK-N-SH	brain:	n/a	chr8:58982705-58982714

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:58948042..58950902-chr8:58979793..58982678,2	MCF-7	breast:

Variant related genes	Relation type
FAM110B	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10092410	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28638177	0.87[AMR][1000 genomes]
rs28711000	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs28760587	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6999637	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7011992	0.81[AFR][1000 genomes];0.87[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	nsv831324	chr8:58844151-59045309	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv1803360	chr8:58976889-58986166	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58935600-58988800	Weak transcription	Aorta	Aorta
2	chr8:58952200-58986400	Weak transcription	Adipose Nuclei	Adipose
3	chr8:58971200-58982800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:58973600-58982600	Weak transcription	Spleen	Spleen
5	chr8:58975800-58982600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:58978600-58982200	Enhancers	HepG2	liver
7	chr8:58978800-58982600	Enhancers	Fetal Brain Male	brain
8	chr8:58978800-58982600	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr8:58979000-58982000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:58979000-58982600	Enhancers	Fetal Brain Female	brain
11	chr8:58979200-58982200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:58979400-58982200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:58979400-58999600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:58979600-58988600	Weak transcription	Lung	lung
15	chr8:58979800-58982600	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr8:58980200-58982400	Weak transcription	Brain Angular Gyrus	brain
17	chr8:58980200-58982600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:58980200-58982600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr8:58980200-58982600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr8:58980200-58982600	Weak transcription	Gastric	stomach
21	chr8:58980200-58982600	Weak transcription	Left Ventricle	heart
22	chr8:58980200-58982800	Weak transcription	Right Ventricle	heart
23	chr8:58980200-58984000	Weak transcription	Pancreas	Pancrea
24	chr8:58980200-58988800	Weak transcription	Placenta	Placenta
25	chr8:58980400-58991400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr8:58980400-58994400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr8:58980600-58982600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr8:58980600-58982600	Weak transcription	HSMMtube	muscle
29	chr8:58980600-58984000	Weak transcription	Stomach Mucosa	stomach
30	chr8:58980600-58988800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr8:58980600-58999600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr8:58980800-58982200	Enhancers	Primary hematopoietic stem cells	blood
33	chr8:58980800-58982400	Weak transcription	Brain Germinal Matrix	brain
34	chr8:58980800-58982600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr8:58980800-58982600	Weak transcription	Brain Anterior Caudate	brain
36	chr8:58980800-58982600	Weak transcription	Psoas Muscle	Psoas
37	chr8:58980800-58982600	Weak transcription	HSMM	muscle
38	chr8:58980800-58982800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr8:58980800-58983000	Weak transcription	Fetal Stomach	stomach
40	chr8:58980800-58984400	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr8:58980800-58989200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr8:58980800-58991600	Weak transcription	Osteobl	bone
43	chr8:58980800-58992000	Weak transcription	Fetal Intestine Small	intestine
44	chr8:58981000-58982600	Weak transcription	Brain Hippocampus Middle	brain
45	chr8:58981000-58982600	Enhancers	Fetal Heart	heart
46	chr8:58981000-58982600	Weak transcription	Stomach Smooth Muscle	stomach
47	chr8:58981000-58982800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr8:58981000-58982800	Weak transcription	Brain Substantia Nigra	brain
49	chr8:58981000-58982800	Weak transcription	NHDF-Ad	bronchial
50	chr8:58981200-58982000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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