Variant report

Variant	rs4748814
Chromosome Location	chr10:22847198-22847199
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:22840018..22841973-chr10:22847029..22849307,2	K562	blood:
2	chr10:22839781..22841518-chr10:22846994..22849307,2	K562	blood:
3	chr10:22844152..22847369-chr10:23341363..23344619,3	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10047326	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs10159730	0.91[EUR][1000 genomes]
rs10430590	0.85[CEU][hapmap]
rs1053454	0.88[CEU][hapmap]
rs10741006	0.93[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs10828314	0.85[CEU][hapmap];0.92[CHB][hapmap];0.96[JPT][hapmap];0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10828315	0.89[CEU][hapmap]
rs10828316	0.85[CEU][hapmap]
rs10828317	0.85[CEU][hapmap]
rs11013045	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs11013046	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11013048	0.96[CEU][hapmap];0.94[EUR][1000 genomes]
rs12146350	0.93[CEU][hapmap];0.88[EUR][1000 genomes]
rs12241748	1.00[CEU][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs1830999	0.85[AFR][1000 genomes]
rs1831000	0.92[AFR][1000 genomes]
rs28666940	0.81[EUR][1000 genomes]
rs3793752	0.91[EUR][1000 genomes]
rs4532931	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4747442	0.89[CEU][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4747443	0.80[YRI][hapmap];0.91[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs4748810	0.88[CEU][hapmap]
rs4748811	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs4748812	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs4748813	1.00[CEU][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs4748816	0.95[EUR][1000 genomes]
rs55867440	0.93[EUR][1000 genomes]
rs7075634	1.00[CEU][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs7081744	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs7082618	0.83[EUR][1000 genomes]
rs7088318	0.92[CEU][hapmap];0.88[YRI][hapmap];0.99[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs7094131	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7097972	1.00[CEU][hapmap];0.96[CHB][hapmap];0.96[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs746203	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs7898308	0.84[ASN][1000 genomes]
rs7901152	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs7912551	0.87[AFR][1000 genomes]
rs7916922	0.92[AFR][1000 genomes]
rs7917185	0.86[AFR][1000 genomes]
rs8341	0.85[CEU][hapmap]
rs943189	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs943190	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs9783154	0.85[CEU][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4748814	PIP5K2A	cis	multi-tissue	Pritchard

Chromatin state (count:115 , 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	chr10:22824000-22853000	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr10:22825000-22852800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr10:22825000-22863800	Weak transcription	Hela-S3	cervix
6	chr10:22825600-22888000	Weak transcription	HMEC	breast
7	chr10:22829000-22887400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr10:22830600-22853000	Weak transcription	HUVEC	blood vessel
9	chr10:22830800-22861000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr10:22831200-22856400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr10:22831800-22852600	Weak transcription	A549	lung
12	chr10:22834800-22853200	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr10:22836800-22856200	Weak transcription	HepG2	liver
14	chr10:22837200-22848800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr10:22838000-22851600	Weak transcription	Spleen	Spleen
16	chr10:22839000-22859400	Strong transcription	Primary T cells from cord blood	blood
17	chr10:22839400-22855200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr10:22839600-22851600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr10:22839600-22853400	Weak transcription	NHEK	skin
20	chr10:22839600-22865200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr10:22839800-22851600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr10:22840200-22852600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr10:22840600-22849000	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr10:22840800-22848800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr10:22840800-22849400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr10:22840800-22849600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr10:22840800-22849600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr10:22840800-22853000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr10:22841000-22853800	Weak transcription	K562	blood
30	chr10:22841000-22855200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr10:22841200-22852200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr10:22841200-22855400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr10:22842400-22855400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr10:22842600-22849400	Weak transcription	Dnd41	blood
35	chr10:22843800-22853000	Weak transcription	Esophagus	oesophagus
36	chr10:22843800-22855400	Weak transcription	Colonic Mucosa	Colon
37	chr10:22844000-22853000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr10:22844000-22853000	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr10:22844000-22853000	Weak transcription	Osteobl	bone
40	chr10:22844000-22855200	Weak transcription	Placenta	Placenta
41	chr10:22844000-22876600	Weak transcription	Right Ventricle	heart
42	chr10:22844200-22847600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr10:22844200-22848000	Weak transcription	Primary hematopoietic stem cells	blood
44	chr10:22844200-22848000	Enhancers	Fetal Lung	lung
45	chr10:22844200-22848600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr10:22844200-22849000	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr10:22844200-22849000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr10:22844200-22849400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr10:22844200-22849400	Weak transcription	Pancreas	Pancrea
50	chr10:22844200-22849400	Weak transcription	HSMMtube	muscle

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