Variant report

Variant	rs187245
Chromosome Location	chr3:138415072-138415073
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:138327469..138329093-chr3:138413776..138415351,2	MCF-7	breast:
2	chr3:138413968..138415862-chr3:138629102..138631519,2	MCF-7	breast:
3	chr3:138413089..138415203-chr3:138417956..138419845,2	K562	blood:

Variant related genes	Relation type
ENSG00000158234	Chromatin interaction

Extended variants
information (count: 135 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:124)

rs_ID	r²[population]
rs1066197	0.81[EUR][1000 genomes]
rs1068104	0.82[EUR][1000 genomes]
rs1068685	0.82[EUR][1000 genomes]
rs11705762	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11709768	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11713049	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11720178	1.00[ASN][1000 genomes]
rs11924814	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13069296	0.83[EUR][1000 genomes]
rs13082808	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1400266	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1663554	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1663556	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1673597	0.82[EUR][1000 genomes]
rs168633	0.80[EUR][1000 genomes]
rs181729	0.83[EUR][1000 genomes]
rs191713	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs191714	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs191775	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2197387	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs244380	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs244381	0.83[EUR][1000 genomes]
rs2595930	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595932	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2607108	0.89[ASN][1000 genomes]
rs2607109	0.89[ASN][1000 genomes]
rs2607796	0.81[EUR][1000 genomes]
rs28376988	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28408150	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34900559	0.89[ASN][1000 genomes]
rs35214574	1.00[ASN][1000 genomes]
rs361054	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs361055	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs361056	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs361057	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs361059	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs361060	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs361061	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs361062	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs361063	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs361064	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs361065	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs361066	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs361067	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs361068	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs361071	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs361072	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs361079	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs361080	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs361081	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs361082	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs361083	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs361084	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs361085	0.89[ASN][1000 genomes]
rs361088	0.82[EUR][1000 genomes]
rs361089	0.82[EUR][1000 genomes]
rs361092	0.83[EUR][1000 genomes]
rs361094	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs361096	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs361097	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs371762	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs385254	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs398065	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs404110	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs409507	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs413147	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4305444	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs439720	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs470359	0.83[EUR][1000 genomes]
rs473388	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs475254	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs476800	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs482334	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4894350	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4894351	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4894352	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4894353	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4894354	1.00[ASN][1000 genomes]
rs491371	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs493152	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs497900	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs500687	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs511207	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs524164	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs531577	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs539619	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs540198	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs540907	0.80[EUR][1000 genomes]
rs550768	0.82[EUR][1000 genomes]
rs558905	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs559160	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs559451	0.84[EUR][1000 genomes]
rs564455	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs574942	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs589986	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs603723	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs607044	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs621204	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62282169	1.00[ASN][1000 genomes]
rs624099	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs625468	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs635592	0.82[EUR][1000 genomes]
rs6439817	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6439819	0.81[EUR][1000 genomes]
rs647972	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6776585	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6795203	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6801207	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6810351	0.82[EUR][1000 genomes]
rs7612106	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7615854	0.90[EUR][1000 genomes]
rs7643722	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs772612	0.83[EUR][1000 genomes]
rs773045	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs773184	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9821694	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9822714	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9823213	0.80[EUR][1000 genomes]
rs9832012	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9834963	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9853819	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9864176	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9874723	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9879784	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530057	chr3:138014877-138734390	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1013074	chr3:138213166-138737688	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1002612	chr3:138213274-138831792	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv536726	chr3:138213274-138831792	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1009726	chr3:138219923-138737688	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv869205	chr3:138248190-138775288	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv868955	chr3:138248190-138848947	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv591854	chr3:138348081-138764229	Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv1010514	chr3:138365640-138737688	Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	esv3443443	chr3:138414666-138415289	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv3395498	chr3:138414702-138415325	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs187245	PIK3CB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138364400-138459200	Weak transcription	Psoas Muscle	Psoas
2	chr3:138368800-138422600	Weak transcription	Right Atrium	heart
3	chr3:138369000-138493000	Weak transcription	Fetal Lung	lung
4	chr3:138369200-138428800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:138369200-138435600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr3:138375200-138429000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr3:138383200-138448200	Weak transcription	Gastric	stomach
8	chr3:138383400-138426400	Weak transcription	Spleen	Spleen
9	chr3:138383400-138443000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr3:138385000-138418400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr3:138390800-138459600	Weak transcription	Right Ventricle	heart
12	chr3:138391200-138422000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr3:138393800-138515000	Weak transcription	Aorta	Aorta
14	chr3:138394000-138418600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:138395200-138436800	Weak transcription	Brain Germinal Matrix	brain
16	chr3:138395800-138444800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr3:138395800-138459800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr3:138395800-138480200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr3:138396000-138436400	Weak transcription	Fetal Brain Female	brain
20	chr3:138396000-138469200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr3:138396200-138422800	Weak transcription	Colonic Mucosa	Colon
22	chr3:138396200-138443200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr3:138396200-138469200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr3:138396200-138486400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr3:138396200-138487000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr3:138397200-138434400	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr3:138399600-138443400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:138400200-138418600	Weak transcription	Fetal Stomach	stomach
29	chr3:138400600-138418400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr3:138400600-138442800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr3:138401600-138436600	Weak transcription	Brain Hippocampus Middle	brain
32	chr3:138401800-138442800	Weak transcription	Brain Angular Gyrus	brain
33	chr3:138402000-138442800	Weak transcription	Brain Substantia Nigra	brain
34	chr3:138402200-138431000	Weak transcription	Stomach Smooth Muscle	stomach
35	chr3:138403600-138415400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr3:138403800-138418000	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr3:138404800-138442200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr3:138405800-138418400	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr3:138406000-138418200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr3:138406000-138432600	Weak transcription	Fetal Kidney	kidney
41	chr3:138406200-138415400	Weak transcription	Dnd41	blood
42	chr3:138406600-138416200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr3:138406600-138420800	Weak transcription	Primary B cells from cord blood	blood
44	chr3:138406600-138420800	Weak transcription	Esophagus	oesophagus
45	chr3:138406800-138415400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr3:138406800-138416400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr3:138406800-138442200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr3:138407000-138421200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr3:138407200-138422600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr3:138408000-138479800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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