Variant report

Variant	rs1491974
Chromosome Location	chr3:151102452-151102453
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10513398	1.00[CEU][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs10513399	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10935844	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10935845	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11708287	0.82[CEU][hapmap]
rs12489121	0.83[CEU][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes]
rs17504	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2276764	0.96[CEU][hapmap];0.93[GIH][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs4680405	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs6787801	0.96[CEU][hapmap];0.98[GIH][hapmap];0.98[LWK][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs67886110	0.85[AFR][1000 genomes]
rs9289836	0.80[YRI][hapmap]

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	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

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1491974	P2RY12	cis	Adipose Subcutaneous	GTEx
rs1491974	RHOC	trans	lymphoblastoid	seeQTL
rs1491974	P2RY12	cis	Nerve Tibial	GTEx
rs1491974	P2RY12	cis	Artery Tibial	GTEx
rs1491974	P2RY12	cis	lung	GTEx

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:151064600-151112400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr3:151065600-151109400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:151065600-151115200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:151069400-151129800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr3:151075600-151136400	Weak transcription	Fetal Brain Female	brain
6	chr3:151079800-151105400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr3:151080400-151105400	Weak transcription	Fetal Muscle Leg	muscle
8	chr3:151083000-151110400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr3:151084400-151109200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr3:151087600-151116000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr3:151090200-151142400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr3:151091600-151105400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr3:151095400-151105800	Weak transcription	Fetal Thymus	thymus
14	chr3:151095400-151111000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:151096000-151129000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:151096600-151112400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr3:151097800-151107800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr3:151097800-151108800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr3:151098800-151143400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr3:151099000-151103600	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr3:151099200-151102800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr3:151099400-151105400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr3:151099400-151107600	Enhancers	Primary B cells from peripheral blood	blood
24	chr3:151099400-151109000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr3:151099600-151107600	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr3:151099800-151103000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr3:151099800-151103400	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr3:151099800-151107800	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr3:151100000-151102600	Enhancers	Fetal Intestine Large	intestine
30	chr3:151100200-151103000	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr3:151100600-151104000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr3:151100800-151102600	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr3:151100800-151102800	Active TSS	Brain Hippocampus Middle	brain
34	chr3:151101000-151102600	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr3:151101000-151102600	Enhancers	Small Intestine	intestine
36	chr3:151101000-151104800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr3:151101200-151102800	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr3:151101200-151102800	Active TSS	Right Atrium	heart
39	chr3:151101400-151102600	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr3:151101600-151102600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr3:151101600-151102600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr3:151101600-151102600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr3:151101600-151102600	Active TSS	Brain Angular Gyrus	brain
44	chr3:151101600-151102600	Enhancers	Fetal Kidney	kidney
45	chr3:151101600-151102600	Active TSS	Fetal Lung	lung
46	chr3:151101600-151102600	Active TSS	Stomach Smooth Muscle	stomach
47	chr3:151101600-151102600	Enhancers	Osteobl	bone
48	chr3:151101600-151102800	Active TSS	Brain Anterior Caudate	brain
49	chr3:151101600-151103000	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr3:151101800-151102600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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