Variant report

Variant	rs8070452
Chromosome Location	chr17:38210057-38210058
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	NFYA	chr17:38209990-38211242	K562	blood:	n/a	chr17:38210698-38210716 chr17:38210673-38210687
2	YY1	chr17:38210056-38211168	SK-N-SH	brain:	n/a	chr17:38210639-38210656 chr17:38210644-38210652 chr17:38210641-38210663 chr17:38210640-38210656 chr17:38210641-38210651
3	HCFC1	chr17:38209984-38211430	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:38208954..38211941-chr17:38226505..38229189,4	MCF-7	breast:
2	chr17:38208975..38210606-chr17:38215686..38218055,2	MCF-7	breast:
3	chr17:38210056..38212088-chr17:38279040..38281229,2	MCF-7	breast:
4	chr17:38174715..38177590-chr17:38209751..38212777,3	K562	blood:
5	chr17:38188602..38190151-chr17:38209862..38212008,2	MCF-7	breast:
6	chr17:38174842..38178903-chr17:38208625..38211251,3	K562	blood:

Variant related genes	Relation type
THRA	TF binding region
MED24	TF binding region
ENSG00000126351	Chromatin interaction
ENSG00000188895	Chromatin interaction
ENSG00000008838	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2302775	0.83[ASN][1000 genomes]
rs2302778	0.83[ASN][1000 genomes]
rs3934886	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6503534	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7503939	0.83[ASN][1000 genomes]
rs9899955	0.81[ASN][1000 genomes]
rs9913632	0.81[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8070452	MED24	cis	Muscle Skeletal	GTEx
rs8070452	MED24	cis	Thyroid	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38204400-38210200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr17:38209400-38210200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
3	chr17:38209400-38210200	Enhancers	Spleen	Spleen
4	chr17:38209600-38210200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr17:38209600-38210200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr17:38209600-38210200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr17:38209600-38210200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr17:38209600-38210200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr17:38209600-38210200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr17:38209600-38210200	Flanking Active TSS	Duodenum Mucosa	Duodenum
11	chr17:38209600-38210200	Enhancers	Fetal Heart	heart
12	chr17:38209600-38210200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
13	chr17:38209600-38210200	Flanking Active TSS	Stomach Smooth Muscle	stomach
14	chr17:38209600-38210200	Flanking Active TSS	Hela-S3	cervix
15	chr17:38209600-38210200	Flanking Active TSS	Osteobl	bone
16	chr17:38209600-38210800	Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr17:38209600-38211000	Active TSS	Brain Cingulate Gyrus	brain
18	chr17:38209600-38211200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr17:38209600-38211400	Active TSS	H9 Cell Line	embryonic stem cell
20	chr17:38209600-38211400	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr17:38209600-38211400	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr17:38209600-38211400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr17:38209600-38211400	Active TSS	Psoas Muscle	Psoas
24	chr17:38209600-38211600	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr17:38209600-38211800	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr17:38209800-38210200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr17:38209800-38210200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr17:38209800-38210200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr17:38209800-38210200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr17:38209800-38210200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr17:38209800-38210200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr17:38209800-38210200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr17:38209800-38210200	Flanking Active TSS	Brain Anterior Caudate	brain
34	chr17:38209800-38210200	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr17:38209800-38210200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr17:38209800-38210200	Flanking Active TSS	Brain Substantia Nigra	brain
37	chr17:38209800-38210200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr17:38209800-38210200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr17:38209800-38210200	Flanking Active TSS	Fetal Muscle Trunk	muscle
40	chr17:38209800-38210200	Flanking Active TSS	Fetal Muscle Leg	muscle
41	chr17:38209800-38210200	Flanking Active TSS	Fetal Thymus	thymus
42	chr17:38209800-38210200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
43	chr17:38209800-38210200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr17:38209800-38210200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr17:38209800-38210200	Flanking Active TSS	Stomach Mucosa	stomach
46	chr17:38209800-38210200	Flanking Active TSS	Thymus	Thymus
47	chr17:38209800-38210200	Flanking Active TSS	Dnd41	blood
48	chr17:38209800-38210200	Flanking Active TSS	HSMM	muscle
49	chr17:38209800-38210200	Flanking Active TSS	HUVEC	blood vessel
50	chr17:38209800-38210200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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