Variant report

Variant	rs12146350
Chromosome Location	chr10:22843111-22843112
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:22842794..22844375-chr10:22847508..22850217,2	K562	blood:
2	chr10:22629512..22631971-chr10:22842069..22844091,2	MCF-7	breast:
3	chr10:22836119..22838816-chr10:22841723..22844142,3	K562	blood:
4	chr10:22627151..22628805-chr10:22841570..22843241,2	K562	blood:
5	chr10:22842052..22844962-chr10:22849749..22851809,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272366	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10047326	0.96[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10159730	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10430590	0.92[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs1053454	0.96[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes]
rs10741006	0.86[CEU][hapmap];0.83[EUR][1000 genomes]
rs10828314	0.93[CEU][hapmap];0.91[EUR][1000 genomes]
rs10828315	0.96[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs10828316	0.92[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs10828317	0.92[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap]
rs11013045	0.96[CEU][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11013046	0.96[CEU][hapmap];0.95[EUR][1000 genomes]
rs11013048	0.89[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12241748	0.93[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2296624	0.85[ASN][1000 genomes]
rs28666940	0.83[ASN][1000 genomes]
rs35549346	0.85[ASN][1000 genomes]
rs3793752	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4532931	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs4747442	0.96[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs4747443	0.81[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4748810	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4748811	0.96[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4748812	0.96[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4748813	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4748814	0.93[CEU][hapmap];0.88[EUR][1000 genomes]
rs4748816	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55867440	0.83[EUR][1000 genomes]
rs7075634	0.92[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7081744	0.93[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7082618	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7088318	0.85[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7094131	0.88[CEU][hapmap];0.85[YRI][hapmap];0.94[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7097972	0.93[CEU][hapmap];0.82[EUR][1000 genomes]
rs746203	0.92[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7898308	0.86[EUR][1000 genomes]
rs7901152	0.92[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8341	0.92[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes]
rs943189	0.96[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs943190	0.96[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9783154	0.92[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12146350	PIP5K2A	cis	multi-tissue	Pritchard

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22822200-22856000	Weak transcription	Small Intestine	intestine
2	chr10:22822800-22870200	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr10:22823000-22844600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr10:22823400-22845200	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr10:22823800-22845200	Strong transcription	Primary T helper cells PMA-I stimulated	--
6	chr10:22824000-22844400	Strong transcription	Primary B cells from cord blood	blood
7	chr10:22824000-22844800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr10:22824000-22853000	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr10:22824400-22845400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr10:22825000-22852800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr10:22825000-22863800	Weak transcription	Hela-S3	cervix
12	chr10:22825600-22843800	Weak transcription	Stomach Mucosa	stomach
13	chr10:22825600-22888000	Weak transcription	HMEC	breast
14	chr10:22825800-22843600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr10:22826000-22843400	Weak transcription	Fetal Brain Female	brain
16	chr10:22826200-22843600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr10:22826600-22843400	Weak transcription	Colonic Mucosa	Colon
18	chr10:22829000-22887400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr10:22830600-22853000	Weak transcription	HUVEC	blood vessel
20	chr10:22830800-22861000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr10:22831200-22843200	Weak transcription	NHLF	lung
22	chr10:22831200-22843600	Weak transcription	Esophagus	oesophagus
23	chr10:22831200-22856400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr10:22831800-22852600	Weak transcription	A549	lung
25	chr10:22832200-22843600	Weak transcription	Pancreas	Pancrea
26	chr10:22834000-22843400	Weak transcription	Psoas Muscle	Psoas
27	chr10:22834000-22843600	Weak transcription	Right Ventricle	heart
28	chr10:22834000-22843800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr10:22834000-22844200	Strong transcription	Primary hematopoietic stem cells	blood
30	chr10:22834200-22845400	Strong transcription	Primary B cells from peripheral blood	blood
31	chr10:22834200-22845400	Strong transcription	GM12878-XiMat	blood
32	chr10:22834600-22844200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr10:22834800-22853200	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr10:22835000-22844400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr10:22836800-22843400	Weak transcription	Aorta	Aorta
36	chr10:22836800-22843400	Weak transcription	NHDF-Ad	bronchial
37	chr10:22836800-22843600	Weak transcription	Fetal Intestine Large	intestine
38	chr10:22836800-22843600	Weak transcription	Placenta	Placenta
39	chr10:22836800-22843600	Weak transcription	Lung	lung
40	chr10:22836800-22856200	Weak transcription	HepG2	liver
41	chr10:22837200-22848800	Weak transcription	Duodenum Mucosa	Duodenum
42	chr10:22837600-22843200	Weak transcription	NH-A	brain
43	chr10:22837800-22844000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr10:22838000-22851600	Weak transcription	Spleen	Spleen
45	chr10:22839000-22859400	Strong transcription	Primary T cells from cord blood	blood
46	chr10:22839400-22843200	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr10:22839400-22843400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr10:22839400-22843600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr10:22839400-22843600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr10:22839400-22855200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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