Variant report

Variant	rs2357475
Chromosome Location	chr8:66535316-66535317
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	chr8:66532234..66535981-chr8:66546059..66548222,3	K562	blood:

Variant related genes	Relation type
ENSG00000104442	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10091345	0.94[EUR][1000 genomes]
rs10106749	0.81[EUR][1000 genomes]
rs10111844	0.84[EUR][1000 genomes]
rs10957358	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10957359	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13274205	0.83[EUR][1000 genomes]
rs13275168	0.84[EUR][1000 genomes]
rs13281090	0.84[EUR][1000 genomes]
rs13281981	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17395275	0.82[EUR][1000 genomes]
rs34496943	0.83[EUR][1000 genomes]
rs35411381	0.81[EUR][1000 genomes]
rs4424306	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62507608	0.83[EUR][1000 genomes]
rs6472219	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7007473	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7462352	0.80[EUR][1000 genomes]
rs7822627	0.82[EUR][1000 genomes]
rs7829434	0.83[EUR][1000 genomes]
rs869151	0.81[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761434	chr8:65578467-66567678	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2357475	CTD-3025N20.3	cis	Artery Tibial	GTEx
rs2357475	CTD-3025N20.3	cis	Muscle Skeletal	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66504000-66545200	Weak transcription	Fetal Brain Male	brain
2	chr8:66506800-66545200	Weak transcription	Stomach Mucosa	stomach
3	chr8:66507800-66538000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:66508000-66545200	Weak transcription	Fetal Heart	heart
5	chr8:66514600-66539200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr8:66517000-66538400	Weak transcription	Small Intestine	intestine
7	chr8:66517200-66539000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr8:66518000-66545600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:66519600-66545200	Weak transcription	Right Atrium	heart
10	chr8:66520000-66545000	Weak transcription	NHEK	skin
11	chr8:66520400-66539600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:66522600-66545200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr8:66524800-66538400	Weak transcription	Psoas Muscle	Psoas
14	chr8:66525600-66545200	Weak transcription	Fetal Kidney	kidney
15	chr8:66526000-66537000	Weak transcription	Gastric	stomach
16	chr8:66526000-66539000	Weak transcription	NHLF	lung
17	chr8:66527600-66535600	Strong transcription	Lung	lung
18	chr8:66527600-66537400	Weak transcription	NHDF-Ad	bronchial
19	chr8:66527600-66539600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:66529200-66541800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr8:66529600-66537600	Strong transcription	Fetal Stomach	stomach
22	chr8:66529600-66539600	Strong transcription	Fetal Intestine Large	intestine
23	chr8:66529600-66539800	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr8:66529600-66540200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:66529600-66540400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:66529600-66541800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr8:66529800-66535400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr8:66529800-66535400	Strong transcription	Placenta	Placenta
29	chr8:66529800-66539600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr8:66529800-66539600	Strong transcription	Fetal Muscle Leg	muscle
31	chr8:66529800-66539800	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr8:66529800-66540000	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr8:66529800-66540000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr8:66529800-66540000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr8:66529800-66540000	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr8:66529800-66540200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:66529800-66540400	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr8:66529800-66540600	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr8:66529800-66540600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr8:66529800-66540600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr8:66529800-66540600	Strong transcription	Duodenum Mucosa	Duodenum
42	chr8:66529800-66541800	Strong transcription	Fetal Thymus	thymus
43	chr8:66529800-66542000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr8:66530000-66538800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr8:66530000-66540600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr8:66530000-66540600	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr8:66530000-66541200	Strong transcription	Fetal Muscle Trunk	muscle
48	chr8:66530200-66545000	Weak transcription	Hela-S3	cervix
49	chr8:66530600-66539600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr8:66530600-66540600	Strong transcription	Adipose Nuclei	Adipose

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