Variant report

Variant	rs17785248
Chromosome Location	chr3:47672915-47672916
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	chr3:47671404..47674024-chr3:47676928..47679281,2	K562	blood:
2	chr3:47667055..47669984-chr3:47671117..47673688,3	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 19 )

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

rs_ID	r²[population]
rs11709289	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11711725	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap]
rs11716779	1.00[ASW][hapmap];0.88[CEU][hapmap];0.89[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13072132	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap]
rs34448818	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.88[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes]
rs35012836	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5016900	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs62262084	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]

mRNA abundance (count:19)

SNP	Gene	Cis/trans	Tissue	Source
rs17785248	MRPS18AP1	cis	Thyroid	GTEx
rs17785248	MRPS18AP1	cis	Esophagus Muscularis	GTEx
rs17785248	ZNF589	cis	Nerve Tibial	GTEx
rs17785248	SMARCC1	cis	cerebellum	SCAN
rs17785248	HYAL2	cis	cerebellum	SCAN
rs17785248	MRPS18AP1	cis	Muscle Skeletal	GTEx
rs17785248	NME6	cis	Esophagus Muscularis	GTEx
rs17785248	MRPS18AP1	cis	Nerve Tibial	GTEx
rs17785248	MRPS18AP1	cis	Artery Tibial	GTEx
rs17785248	ZNF589	cis	parietal	SCAN
rs17785248	DHX30	Cis_1M	lymphoblastoid	RTeQTL
rs17785248	CDC25A	cis	cerebellum	SCAN
rs17785248	SMARCC1	Cis_1M	lymphoblastoid	RTeQTL
rs17785248	ZNF589	cis	Artery Tibial	GTEx
rs17785248	MAP4	Cis_1M	lymphoblastoid	RTeQTL
rs17785248	CDC25A	cis	Muscle Skeletal	GTEx
rs17785248	ZNF589	cis	cerebellum	SCAN
rs17785248	ZNF589	cis	Esophagus Muscularis	GTEx
rs17785248	ATRIP	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47626200-47698600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr3:47626400-47680600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr3:47626600-47688600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr3:47626600-47699800	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr3:47626800-47680800	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr3:47635000-47686800	Strong transcription	Dnd41	blood
7	chr3:47638000-47681200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:47639200-47675800	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr3:47643600-47684800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr3:47644200-47676000	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr3:47653400-47678200	Strong transcription	Fetal Intestine Large	intestine
12	chr3:47654400-47707600	Weak transcription	Stomach Mucosa	stomach
13	chr3:47655000-47681000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr3:47655000-47681600	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr3:47655400-47676600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr3:47655600-47677000	Strong transcription	Primary B cells from cord blood	blood
17	chr3:47655600-47684600	Strong transcription	Liver	Liver
18	chr3:47655800-47686800	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr3:47655800-47698800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:47655800-47765600	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr3:47656000-47680600	Strong transcription	Fetal Muscle Leg	muscle
22	chr3:47656200-47681600	Strong transcription	Primary B cells from peripheral blood	blood
23	chr3:47656200-47699800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr3:47656400-47679800	Strong transcription	Thymus	Thymus
25	chr3:47656400-47693800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr3:47656400-47698200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr3:47656600-47675400	Weak transcription	Brain Substantia Nigra	brain
28	chr3:47656600-47790800	Strong transcription	Fetal Thymus	thymus
29	chr3:47657000-47690600	Weak transcription	Fetal Heart	heart
30	chr3:47657000-47700000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr3:47658000-47699800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr3:47658200-47680600	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr3:47658800-47680800	Strong transcription	K562	blood
34	chr3:47659800-47673400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr3:47660000-47675600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr3:47660000-47680800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr3:47660400-47680600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr3:47661000-47681200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr3:47661400-47680600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr3:47661400-47711400	Weak transcription	Colonic Mucosa	Colon
41	chr3:47661600-47682600	Weak transcription	Aorta	Aorta
42	chr3:47661600-47688000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr3:47662400-47676600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr3:47662600-47676400	Weak transcription	Fetal Brain Male	brain
45	chr3:47663800-47675200	Strong transcription	Fetal Stomach	stomach
46	chr3:47664400-47689400	Weak transcription	Psoas Muscle	Psoas
47	chr3:47664600-47675400	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr3:47665200-47673800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr3:47665400-47675600	Strong transcription	Brain Germinal Matrix	brain
50	chr3:47666600-47680400	Strong transcription	Fetal Muscle Trunk	muscle

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