Variant report

Variant	rs17283052
Chromosome Location	chr3:151128392-151128393
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:151126149..151128447-chr3:151131678..151134323,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10935840	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs10935841	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs10935842	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs10935843	0.87[EUR][1000 genomes]
rs11707416	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs11708287	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11708767	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11709550	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11713504	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs11717169	0.87[EUR][1000 genomes]
rs11923424	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs12485508	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs12488803	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs12489121	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12490051	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12490184	0.87[EUR][1000 genomes]
rs12492266	0.87[EUR][1000 genomes]
rs12493628	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs12497065	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs12497089	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs12498042	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs17204501	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs17204508	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs17204515	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs17204536	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs17283010	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs17283038	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17283059	0.87[EUR][1000 genomes]
rs2276765	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs3732765	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs3821663	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs4679817	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs4680400	0.87[EUR][1000 genomes]
rs4680405	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4680406	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs4680408	0.87[EUR][1000 genomes]
rs57335550	0.85[EUR][1000 genomes]
rs57781984	0.85[EUR][1000 genomes]
rs59605118	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60105866	0.85[EUR][1000 genomes]
rs67886110	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6798637	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6803771	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs73159907	0.86[EUR][1000 genomes]
rs73159908	0.86[EUR][1000 genomes]
rs73159915	0.87[EUR][1000 genomes]
rs73159920	0.87[EUR][1000 genomes]
rs7612010	0.86[ASN][1000 genomes]
rs765281	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829757	chr3:151044880-151226442	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1000355	chr3:151108859-151243835	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv995048	chr3:151114074-151560019	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17283052	P2RY12	cis	Adipose Subcutaneous	GTEx
rs17283052	P2RY12	cis	lung	GTEx

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:151069400-151129800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr3:151075600-151136400	Weak transcription	Fetal Brain Female	brain
3	chr3:151090200-151142400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr3:151096000-151129000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:151098800-151143400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr3:151102200-151148600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr3:151102600-151132000	Weak transcription	Brain Angular Gyrus	brain
8	chr3:151102800-151136400	Weak transcription	Brain Substantia Nigra	brain
9	chr3:151102800-151150600	Weak transcription	Brain Anterior Caudate	brain
10	chr3:151104200-151139600	Weak transcription	Dnd41	blood
11	chr3:151106000-151130800	Weak transcription	Fetal Intestine Small	intestine
12	chr3:151106000-151134200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr3:151106000-151154600	Weak transcription	Fetal Muscle Leg	muscle
14	chr3:151106200-151131200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:151112800-151143400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr3:151113200-151142600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr3:151113400-151143600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr3:151116000-151128400	Weak transcription	Placenta	Placenta
19	chr3:151117600-151142600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr3:151117800-151128800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr3:151118400-151130600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr3:151119000-151142600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr3:151121600-151129000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr3:151121800-151138400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr3:151122600-151135400	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr3:151122800-151139800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr3:151123200-151139600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr3:151124600-151139200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr3:151125600-151131600	Strong transcription	Primary hematopoietic stem cells	blood
30	chr3:151126800-151140200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr3:151126800-151148600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr3:151127200-151149200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr3:151128000-151129400	Enhancers	NHDF-Ad	bronchial
34	chr3:151128000-151129400	Enhancers	NHLF	lung
35	chr3:151128000-151129400	Enhancers	Osteobl	bone
36	chr3:151128000-151130200	Enhancers	HSMMtube	muscle
37	chr3:151128000-151132400	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr3:151128200-151129200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr3:151128200-151129600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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