Variant report

Variant	rs1895071
Chromosome Location	chr3:177719623-177719624
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11919642	1.00[MEX][hapmap];0.80[AMR][1000 genomes]
rs16828802	1.00[MEX][hapmap];0.80[AMR][1000 genomes]
rs2068607	0.80[AMR][1000 genomes]
rs2068608	0.80[AMR][1000 genomes]
rs57731768	0.80[AMR][1000 genomes]
rs61640172	0.84[AMR][1000 genomes]
rs62283977	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62283980	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62283982	0.86[EUR][1000 genomes]
rs7645340	1.00[CEU][hapmap];1.00[CHD][hapmap]

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	nsv931055	chr3:177229521-177889872	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv829805	chr3:177662113-177805003	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv997975	chr3:177664921-177719623	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1895071	PIK3CA	cis	cerebellum	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:177717800-177722600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr3:177718200-177720000	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr3:177718400-177725000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr3:177718600-177720600	Enhancers	Primary B cells from cord blood	blood
5	chr3:177718600-177720600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr3:177718600-177722400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr3:177718600-177722600	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr3:177719000-177721200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr3:177719000-177722200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr3:177719200-177720200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr3:177719200-177720200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr3:177719200-177720400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr3:177719200-177720600	Enhancers	Primary T cells fromperipheralblood	blood
14	chr3:177719200-177722000	Enhancers	Dnd41	blood
15	chr3:177719400-177719800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr3:177719400-177719800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr3:177719400-177719800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr3:177719400-177720000	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr3:177719400-177720000	Enhancers	Primary hematopoietic stem cells	blood
20	chr3:177719400-177720000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
21	chr3:177719400-177720000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr3:177719400-177720000	Enhancers	HMEC	breast
23	chr3:177719400-177720200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr3:177719400-177720200	Enhancers	GM12878-XiMat	blood
25	chr3:177719400-177720400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr3:177719400-177720400	Enhancers	Thymus	Thymus
27	chr3:177719400-177720600	Enhancers	Fetal Thymus	thymus
28	chr3:177719600-177719800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr3:177719600-177719800	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr3:177719600-177720000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr3:177719600-177720400	Enhancers	Primary B cells from peripheral blood	blood

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