Variant report

Variant	rs6810351
Chromosome Location	chr3:138519663-138519664
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 143 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:132)

rs_ID	r²[population]
rs1066197	0.89[EUR][1000 genomes]
rs1068104	0.89[EUR][1000 genomes]
rs1068685	0.90[EUR][1000 genomes]
rs11705762	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11709768	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11713049	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11717457	0.88[EUR][1000 genomes]
rs11720178	0.93[EUR][1000 genomes]
rs11924814	0.99[EUR][1000 genomes]
rs13069296	0.90[EUR][1000 genomes]
rs13082808	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13433948	0.87[EUR][1000 genomes]
rs1400266	0.99[EUR][1000 genomes]
rs1663556	0.91[EUR][1000 genomes]
rs1673597	0.89[EUR][1000 genomes]
rs168633	0.94[EUR][1000 genomes]
rs181729	0.90[EUR][1000 genomes]
rs187245	0.82[EUR][1000 genomes]
rs191713	0.94[EUR][1000 genomes]
rs191714	0.95[EUR][1000 genomes]
rs191775	0.95[EUR][1000 genomes]
rs2197387	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2348147	0.84[EUR][1000 genomes]
rs244380	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs244381	0.92[EUR][1000 genomes]
rs2595928	0.87[EUR][1000 genomes]
rs2595930	0.90[EUR][1000 genomes]
rs2607796	0.89[EUR][1000 genomes]
rs28376988	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28408150	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2881900	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34900559	0.84[EUR][1000 genomes]
rs35214574	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs361054	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs361057	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs361059	0.95[EUR][1000 genomes]
rs361060	0.96[EUR][1000 genomes]
rs361061	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs361062	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs361063	0.90[EUR][1000 genomes]
rs361066	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs361067	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs361068	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs361069	0.88[EUR][1000 genomes]
rs361071	0.97[EUR][1000 genomes]
rs361072	0.97[EUR][1000 genomes]
rs361080	0.94[EUR][1000 genomes]
rs361081	0.94[EUR][1000 genomes]
rs361082	0.94[EUR][1000 genomes]
rs361083	0.94[EUR][1000 genomes]
rs361084	0.95[EUR][1000 genomes]
rs361088	0.89[EUR][1000 genomes]
rs361089	0.90[EUR][1000 genomes]
rs361092	0.91[EUR][1000 genomes]
rs361094	0.90[EUR][1000 genomes]
rs361097	0.89[EUR][1000 genomes]
rs371762	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs385254	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs398065	0.98[EUR][1000 genomes]
rs404110	0.97[EUR][1000 genomes]
rs409507	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs413147	0.99[EUR][1000 genomes]
rs425901	0.93[EUR][1000 genomes]
rs4305444	0.94[EUR][1000 genomes]
rs439720	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4405948	0.83[EUR][1000 genomes]
rs448808	0.92[EUR][1000 genomes]
rs470359	0.90[EUR][1000 genomes]
rs473388	0.97[EUR][1000 genomes]
rs475254	0.91[EUR][1000 genomes]
rs476800	0.97[EUR][1000 genomes]
rs482334	0.98[EUR][1000 genomes]
rs4894350	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4894351	0.97[EUR][1000 genomes]
rs4894352	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4894353	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4894354	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs491371	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs497900	0.95[EUR][1000 genomes]
rs500687	0.98[EUR][1000 genomes]
rs511207	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs524164	0.91[EUR][1000 genomes]
rs539156	0.92[EUR][1000 genomes]
rs539619	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs540198	0.97[EUR][1000 genomes]
rs540907	0.93[EUR][1000 genomes]
rs550768	0.89[EUR][1000 genomes]
rs558905	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs559160	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs559451	0.93[EUR][1000 genomes]
rs564455	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs589986	0.89[EUR][1000 genomes]
rs603723	0.91[EUR][1000 genomes]
rs607044	0.97[EUR][1000 genomes]
rs618457	0.87[EUR][1000 genomes]
rs621204	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62282169	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs624099	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs625468	0.91[EUR][1000 genomes]
rs635592	0.90[EUR][1000 genomes]
rs6439817	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6439819	0.94[EUR][1000 genomes]
rs647972	0.97[EUR][1000 genomes]
rs654459	0.82[EUR][1000 genomes]
rs6776585	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6780989	0.80[EUR][1000 genomes]
rs6781914	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6784610	0.87[EUR][1000 genomes]
rs6794270	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6795203	0.94[EUR][1000 genomes]
rs6800801	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6801207	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7612106	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7643722	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs772612	0.96[EUR][1000 genomes]
rs773045	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs773184	0.89[EUR][1000 genomes]
rs9289566	0.81[EUR][1000 genomes]
rs9647337	0.80[EUR][1000 genomes]
rs9818354	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9821694	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9822714	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9823213	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9832012	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9834963	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9853819	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9855727	0.81[EUR][1000 genomes]
rs9863481	0.83[EUR][1000 genomes]
rs9864176	0.91[EUR][1000 genomes]
rs9874723	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9877108	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9879784	0.93[EUR][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	nsv1000927	chr3:138423543-138632596	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv917964	chr3:138440701-138699084	Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6810351	PIK3CB	Cis_1M	lymphoblastoid	RTeQTL
rs6810351	CEP70	Cis_1M	lymphoblastoid	RTeQTL
rs6810351	FAIM	cis	Muscle Skeletal	GTEx

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138494600-138521200	Weak transcription	Right Ventricle	heart
2	chr3:138494800-138537000	Weak transcription	HUVEC	blood vessel
3	chr3:138496200-138521400	Weak transcription	Brain Anterior Caudate	brain
4	chr3:138496200-138522400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr3:138501200-138534200	Weak transcription	Dnd41	blood
6	chr3:138501600-138532800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr3:138502000-138522400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr3:138504000-138552000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr3:138505000-138522200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr3:138505600-138526400	Weak transcription	Brain Germinal Matrix	brain
11	chr3:138505800-138522200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr3:138506000-138521600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr3:138506000-138525600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr3:138506000-138542200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr3:138506000-138551800	Weak transcription	Primary B cells from cord blood	blood
16	chr3:138506200-138520400	Weak transcription	Osteobl	bone
17	chr3:138506400-138521800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr3:138506400-138536800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr3:138506600-138537000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr3:138506800-138527200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr3:138509800-138522400	Weak transcription	Small Intestine	intestine
22	chr3:138510600-138526400	Weak transcription	Pancreas	Pancrea
23	chr3:138510600-138530600	Weak transcription	Fetal Stomach	stomach
24	chr3:138510800-138522200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr3:138511000-138534400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr3:138512000-138542800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr3:138512400-138536800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr3:138512600-138521800	Weak transcription	HMEC	breast
29	chr3:138512600-138534000	Weak transcription	Primary B cells from peripheral blood	blood
30	chr3:138513400-138521400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr3:138513400-138522400	Weak transcription	Lung	lung
32	chr3:138513400-138528600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr3:138513400-138536800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr3:138513400-138544400	Weak transcription	Fetal Muscle Leg	muscle
35	chr3:138513600-138521600	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr3:138513600-138522200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr3:138513600-138526600	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr3:138513600-138533400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr3:138513600-138534200	Weak transcription	Primary T cells from cord blood	blood
40	chr3:138513600-138536600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr3:138513800-138521200	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr3:138513800-138521800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr3:138513800-138522000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr3:138513800-138522000	Weak transcription	Liver	Liver
45	chr3:138513800-138524400	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr3:138513800-138534000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr3:138513800-138534600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr3:138513800-138543000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr3:138513800-138543000	Weak transcription	Placenta	Placenta
50	chr3:138514000-138522800	Weak transcription	Primary T helper cells fromperipheralblood	blood

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