Variant report

Variant	rs8341
Chromosome Location	chr10:22825133-22825134
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	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	0.96[CEU][hapmap];0.91[CHB][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];0.86[MEX][hapmap];0.92[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10430590	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs1053454	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]
rs10741006	0.85[CEU][hapmap]
rs10828314	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs10828315	0.88[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs10828316	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs10828317	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs11013045	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11013046	0.96[CEU][hapmap];0.91[GIH][hapmap];0.85[EUR][1000 genomes]
rs11013048	0.81[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs12146350	0.92[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes]
rs12241748	0.85[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap]
rs1536332	0.82[ASN][1000 genomes]
rs1830997	0.93[ASN][1000 genomes]
rs1830998	0.93[ASN][1000 genomes]
rs1830999	0.92[ASN][1000 genomes]
rs1831000	0.92[ASN][1000 genomes]
rs2364115	0.90[ASN][1000 genomes]
rs2885993	0.93[ASN][1000 genomes]
rs4532931	0.96[CEU][hapmap];0.84[GIH][hapmap];0.84[TSI][hapmap];0.85[EUR][1000 genomes]
rs4747442	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs4747443	0.85[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes]
rs4748808	0.90[ASN][1000 genomes]
rs4748810	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4748811	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4748812	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs4748813	0.84[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap]
rs4748814	0.85[CEU][hapmap]
rs7075634	0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs7081744	0.84[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap]
rs7082618	0.88[EUR][1000 genomes]
rs7088318	0.85[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs7094131	0.81[CEU][hapmap]
rs7097972	0.84[CEU][hapmap]
rs746203	0.92[CEU][hapmap];0.86[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.89[EUR][1000 genomes]
rs7899156	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7901152	0.92[CEU][hapmap];0.91[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.82[TSI][hapmap];0.89[EUR][1000 genomes]
rs7911272	0.92[ASN][1000 genomes]
rs7912551	0.91[ASN][1000 genomes]
rs7916922	0.92[ASN][1000 genomes]
rs7917185	0.92[ASN][1000 genomes]
rs943189	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs943190	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs9783154	0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs9787624	0.91[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
rs8341	PIP5K2A	cis	multi-tissue	Pritchard

Chromatin state (count:110 , 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	chr10:22819600-22825200	Weak transcription	Fetal Muscle Leg	muscle
4	chr10:22819800-22825200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr10:22819800-22825400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr10:22819800-22825400	Weak transcription	Spleen	Spleen
7	chr10:22820000-22826600	Weak transcription	Aorta	Aorta
8	chr10:22820200-22826200	Weak transcription	A549	lung
9	chr10:22820200-22827800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr10:22820200-22828000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr10:22820400-22825200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr10:22820600-22830000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr10:22820800-22825400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr10:22820800-22828000	Weak transcription	HSMMtube	muscle
15	chr10:22821000-22825200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr10:22821400-22825400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr10:22821400-22826000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr10:22821400-22826000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr10:22821400-22826200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr10:22821600-22827400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr10:22821800-22825200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr10:22821800-22825200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr10:22821800-22825400	Weak transcription	Lung	lung
24	chr10:22822000-22825200	Weak transcription	Dnd41	blood
25	chr10:22822000-22826200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr10:22822200-22826800	Enhancers	Brain Substantia Nigra	brain
27	chr10:22822200-22834200	Strong transcription	Primary T cells from cord blood	blood
28	chr10:22822200-22856000	Weak transcription	Small Intestine	intestine
29	chr10:22822400-22825200	Weak transcription	Fetal Stomach	stomach
30	chr10:22822400-22825800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr10:22822400-22826000	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr10:22822400-22826600	Weak transcription	Gastric	stomach
33	chr10:22822400-22826800	Enhancers	Brain Cingulate Gyrus	brain
34	chr10:22822400-22833400	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr10:22822600-22825200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr10:22822600-22825600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr10:22822600-22826600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr10:22822600-22826600	Weak transcription	Right Ventricle	heart
39	chr10:22822800-22827000	Weak transcription	Fetal Intestine Large	intestine
40	chr10:22822800-22832600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr10:22822800-22833400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr10:22822800-22870200	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr10:22823000-22844600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr10:22823200-22825200	Weak transcription	Fetal Muscle Trunk	muscle
45	chr10:22823200-22825400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr10:22823200-22825400	Weak transcription	Fetal Intestine Small	intestine
47	chr10:22823200-22825400	Weak transcription	Pancreas	Pancrea
48	chr10:22823200-22825800	Weak transcription	Liver	Liver
49	chr10:22823200-22826000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr10:22823200-22831200	Strong transcription	Fetal Thymus	thymus

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