Variant report

Variant	rs17504
Chromosome Location	chr3:151116034-151116035
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	chr3:151115355..151117681-chr3:151126429..151128224,2	K562	blood:
2	chr3:151114494..151116780-chr3:151117358..151119527,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10513398	0.86[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs10513399	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10935844	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10935845	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12489121	0.83[AFR][1000 genomes]
rs1491974	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2276764	0.90[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs4680405	0.94[AFR][1000 genomes]
rs6787801	0.94[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs67886110	0.84[AFR][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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs17504	P2RY12	cis	Artery Tibial	GTEx
rs17504	P2RY12	cis	lung	GTEx
rs17504	P2RY12	cis	Adipose Subcutaneous	GTEx
rs17504	P2RY12	cis	Nerve Tibial	GTEx

Chromatin state (count:35 , 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	chr3:151106200-151122000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr3:151106200-151128000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr3:151106200-151131200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:151106400-151121400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr3:151106400-151121400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:151111400-151116400	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr3:151112800-151143400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr3:151113000-151116800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr3:151113000-151118200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr3:151113200-151117200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr3:151113200-151142600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr3:151113400-151143600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr3:151113600-151116800	Strong transcription	Primary hematopoietic stem cells	blood
27	chr3:151113800-151116600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr3:151113800-151116800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr3:151113800-151117000	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr3:151114000-151120200	Weak transcription	NHLF	lung
31	chr3:151114200-151118200	Weak transcription	NHEK	skin
32	chr3:151114200-151120200	Weak transcription	HMEC	breast
33	chr3:151115200-151116800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr3:151116000-151118400	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr3:151116000-151128400	Weak transcription	Placenta	Placenta

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