Variant report

Variant	rs470359
Chromosome Location	chr3:138368962-138368963
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:138366382..138369561-chr3:138372165..138374975,3	K562	blood:
2	chr3:138363143..138366102-chr3:138366258..138369219,2	K562	blood:
3	chr3:138366382..138369111-chr3:138372165..138373999,2	K562	blood:
4	chr3:138327553..138329730-chr3:138368846..138371731,2	K562	blood:

Variant related genes	Relation type
ENSG00000174715	Chromatin interaction
ENSG00000158234	Chromatin interaction

Extended variants
information (count: 151 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:141)

rs_ID	r²[population]
rs1066197	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1068104	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1068685	0.87[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11705762	0.90[EUR][1000 genomes]
rs11709768	0.91[EUR][1000 genomes]
rs11713049	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11717457	0.85[EUR][1000 genomes]
rs11720178	0.85[EUR][1000 genomes]
rs11924814	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13069296	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13082808	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13433948	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1400266	0.90[EUR][1000 genomes]
rs1663554	0.87[EUR][1000 genomes]
rs1663556	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1673597	0.83[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs168633	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs181729	0.91[EUR][1000 genomes]
rs187245	0.83[EUR][1000 genomes]
rs191713	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs191714	1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs191775	0.84[YRI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2197387	0.92[EUR][1000 genomes]
rs2348147	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs244380	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs244381	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2595928	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2595930	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2595932	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2607796	0.81[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28376988	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28408150	0.90[EUR][1000 genomes]
rs35214574	0.87[EUR][1000 genomes]
rs361054	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs361055	0.87[EUR][1000 genomes]
rs361056	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs361057	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs361059	0.86[YRI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs361060	1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs361061	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs361062	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs361063	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs361064	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs361065	0.87[EUR][1000 genomes]
rs361066	0.92[EUR][1000 genomes]
rs361067	0.97[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs361068	0.92[EUR][1000 genomes]
rs361069	0.84[EUR][1000 genomes]
rs361071	0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs361072	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs361079	0.83[AMR][1000 genomes]
rs361080	0.86[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs361081	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs361082	0.87[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs361083	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs361084	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs361086	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs361087	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs361088	0.90[YRI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs361089	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs361092	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs361094	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs361096	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs361097	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs371762	0.90[EUR][1000 genomes]
rs385254	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs398065	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs404110	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs409507	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs413147	0.90[EUR][1000 genomes]
rs425901	0.87[EUR][1000 genomes]
rs4305444	0.87[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs439720	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs448808	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs473388	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs475254	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs476800	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs482334	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4894350	0.92[EUR][1000 genomes]
rs4894351	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4894352	0.92[EUR][1000 genomes]
rs4894353	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4894354	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs491371	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs493152	1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs497900	0.86[YRI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs500687	0.89[YRI][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs511207	0.91[EUR][1000 genomes]
rs524164	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs531577	0.87[EUR][1000 genomes]
rs537894	0.81[AMR][1000 genomes]
rs539156	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs539619	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs540198	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs540907	0.88[EUR][1000 genomes]
rs550768	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs558905	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs559160	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs559451	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs564455	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs574942	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs589986	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs600590	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs601032	1.00[ASN][1000 genomes]
rs603723	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs607044	0.92[EUR][1000 genomes]
rs618457	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs621204	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62282169	0.84[EUR][1000 genomes]
rs624099	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs625468	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs635592	0.84[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6439817	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6439819	0.89[EUR][1000 genomes]
rs647972	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs654459	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6776585	0.90[EUR][1000 genomes]
rs6781914	0.82[EUR][1000 genomes]
rs6784610	0.89[YRI][hapmap]
rs6794270	0.80[EUR][1000 genomes]
rs6795203	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6801207	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6810351	0.90[EUR][1000 genomes]
rs7612106	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7615854	0.81[EUR][1000 genomes]
rs7641106	0.89[ASN][1000 genomes]
rs7643722	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs772612	0.91[EUR][1000 genomes]
rs773045	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs773184	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9647336	0.87[YRI][hapmap]
rs9647337	0.86[YRI][hapmap]
rs9821694	0.92[EUR][1000 genomes]
rs9822714	0.92[EUR][1000 genomes]
rs9823213	0.88[EUR][1000 genomes]
rs9832012	0.91[EUR][1000 genomes]
rs9834963	0.87[YRI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9853819	0.88[EUR][1000 genomes]
rs9863481	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9864176	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9879784	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv967070	chr3:138355155-138372373	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
10	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs470359	PIK3CB	Cis_1M	lymphoblastoid	RTeQTL
rs470359	CEP70	Cis_1M	lymphoblastoid	RTeQTL
rs470359	FAIM	cis	Muscle Skeletal	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138340400-138393800	Weak transcription	Fetal Brain Male	brain
2	chr3:138360600-138372000	Weak transcription	NH-A	brain
3	chr3:138360800-138407600	Weak transcription	HUVEC	blood vessel
4	chr3:138364400-138459200	Weak transcription	Psoas Muscle	Psoas
5	chr3:138367200-138374200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:138367400-138369000	Strong transcription	Muscle Satellite Cultured Cells	--
7	chr3:138367400-138369200	Strong transcription	Skeletal Muscle Female	skeletal muscle
8	chr3:138367400-138370200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr3:138367600-138369000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr3:138367600-138369000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
11	chr3:138367600-138369200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
12	chr3:138367600-138369200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:138367600-138369200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr3:138367600-138369200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr3:138367600-138369200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr3:138367600-138369200	ZNF genes & repeats	Fetal Muscle Leg	muscle
17	chr3:138367600-138369400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr3:138367600-138369400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
19	chr3:138367600-138369400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr3:138367600-138369400	Strong transcription	Brain Anterior Caudate	brain
21	chr3:138367600-138369800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
22	chr3:138367600-138369800	Strong transcription	Primary T cells from cord blood	blood
23	chr3:138367600-138370200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
24	chr3:138367600-138370800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
25	chr3:138367600-138381000	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr3:138367800-138369000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr3:138367800-138369000	Strong transcription	Pancreatic Islets	Pancreatic Islet
28	chr3:138367800-138369000	Strong transcription	HSMM	muscle
29	chr3:138367800-138369200	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
30	chr3:138367800-138369200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
31	chr3:138367800-138369200	ZNF genes & repeats	Liver	Liver
32	chr3:138367800-138369200	Strong transcription	Colon Smooth Muscle	Colon
33	chr3:138367800-138369200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
34	chr3:138367800-138369200	ZNF genes & repeats	Fetal Intestine Small	intestine
35	chr3:138367800-138369200	Strong transcription	Fetal Kidney	kidney
36	chr3:138367800-138369200	Strong transcription	Ovary	ovary
37	chr3:138367800-138369200	ZNF genes & repeats	A549	lung
38	chr3:138367800-138369200	ZNF genes & repeats	Dnd41	blood
39	chr3:138367800-138369200	ZNF genes & repeats	K562	blood
40	chr3:138367800-138369400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr3:138367800-138369400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
42	chr3:138367800-138369400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
43	chr3:138367800-138369400	Strong transcription	Brain Hippocampus Middle	brain
44	chr3:138367800-138369400	Strong transcription	Brain Inferior Temporal Lobe	brain
45	chr3:138367800-138369400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
46	chr3:138367800-138369600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
47	chr3:138367800-138369600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr3:138367800-138369800	Strong transcription	Brain Cingulate Gyrus	brain
49	chr3:138367800-138369800	Strong transcription	Osteobl	bone
50	chr3:138367800-138377600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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