Variant report

Variant	rs1053454
Chromosome Location	chr10:22826093-22826094
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:22817636..22822369-chr10:22822584..22826795,5	K562	blood:
2	chr10:22630133..22633021-chr10:22824543..22827360,3	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10047326	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.86[MEX][hapmap];0.92[TSI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10430590	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10741006	0.89[CEU][hapmap]
rs10828314	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs10828315	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10828316	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs10828317	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs11013045	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11013046	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs11013048	0.85[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs12146350	0.96[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes]
rs12241748	0.88[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap]
rs1536332	0.80[ASN][1000 genomes]
rs1830997	0.91[ASN][1000 genomes]
rs1830998	0.91[ASN][1000 genomes]
rs1830999	0.88[ASN][1000 genomes]
rs1831000	0.88[ASN][1000 genomes]
rs2364115	0.89[ASN][1000 genomes]
rs2885993	0.91[ASN][1000 genomes]
rs4532931	0.92[CEU][hapmap];0.84[GIH][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes]
rs4747442	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs4747443	0.85[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes]
rs4748808	0.88[ASN][1000 genomes]
rs4748810	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4748811	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4748812	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4748813	0.88[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap]
rs4748814	0.88[CEU][hapmap]
rs7075634	0.88[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs7081744	0.88[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap]
rs7082618	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7088318	0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs7094131	0.84[CEU][hapmap]
rs7097972	0.88[CEU][hapmap]
rs746203	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7899156	0.93[ASN][1000 genomes]
rs7901152	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.82[TSI][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7911272	0.91[ASN][1000 genomes]
rs7912551	0.89[ASN][1000 genomes]
rs7916922	0.88[ASN][1000 genomes]
rs7917185	0.88[ASN][1000 genomes]
rs8341	1.00[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs943189	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs943190	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9783154	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs9787624	0.93[ASN][1000 genomes]

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	nsv975032	chr10:22823880-22826501	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1053454	PIP5K2A	cis	multi-tissue	Pritchard

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22819000-22830000	Weak transcription	HUVEC	blood vessel
2	chr10:22819400-22827800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr10:22820000-22826600	Weak transcription	Aorta	Aorta
4	chr10:22820200-22826200	Weak transcription	A549	lung
5	chr10:22820200-22827800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr10:22820200-22828000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr10:22820600-22830000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr10:22820800-22828000	Weak transcription	HSMMtube	muscle
9	chr10:22821400-22826200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr10:22821600-22827400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr10:22822000-22826200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr10:22822200-22826800	Enhancers	Brain Substantia Nigra	brain
13	chr10:22822200-22834200	Strong transcription	Primary T cells from cord blood	blood
14	chr10:22822200-22856000	Weak transcription	Small Intestine	intestine
15	chr10:22822400-22826600	Weak transcription	Gastric	stomach
16	chr10:22822400-22826800	Enhancers	Brain Cingulate Gyrus	brain
17	chr10:22822400-22833400	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr10:22822600-22826600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr10:22822600-22826600	Weak transcription	Right Ventricle	heart
20	chr10:22822800-22827000	Weak transcription	Fetal Intestine Large	intestine
21	chr10:22822800-22832600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr10:22822800-22833400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr10:22822800-22870200	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr10:22823000-22844600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr10:22823200-22831200	Strong transcription	Fetal Thymus	thymus
26	chr10:22823400-22826600	Weak transcription	Right Atrium	heart
27	chr10:22823400-22828800	Strong transcription	GM12878-XiMat	blood
28	chr10:22823400-22845200	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr10:22823600-22826600	Weak transcription	Left Ventricle	heart
30	chr10:22823600-22826800	Weak transcription	Esophagus	oesophagus
31	chr10:22823600-22828200	Weak transcription	NHDF-Ad	bronchial
32	chr10:22823600-22842200	Weak transcription	Colon Smooth Muscle	Colon
33	chr10:22823800-22826200	Weak transcription	Brain Anterior Caudate	brain
34	chr10:22823800-22826800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr10:22823800-22833800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr10:22823800-22845200	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr10:22824000-22830000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr10:22824000-22833800	Strong transcription	Primary B cells from peripheral blood	blood
39	chr10:22824000-22844400	Strong transcription	Primary B cells from cord blood	blood
40	chr10:22824000-22844800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr10:22824000-22853000	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr10:22824200-22827000	Weak transcription	Fetal Heart	heart
43	chr10:22824200-22827000	Weak transcription	Osteobl	bone
44	chr10:22824200-22830000	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr10:22824200-22831600	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr10:22824200-22832000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr10:22824200-22833200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr10:22824200-22833600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr10:22824200-22839000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr10:22824200-22840000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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