Variant report

Variant	rs361086
Chromosome Location	chr3:138381865-138381866
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:138312928..138314956-chr3:138381208..138383898,2	K562	blood:

Variant related genes	Relation type
ENSG00000114107	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1066197	0.82[EUR][1000 genomes]
rs1068104	0.83[EUR][1000 genomes]
rs1068685	0.84[EUR][1000 genomes]
rs13069296	0.84[EUR][1000 genomes]
rs13433948	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1663556	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1673597	0.83[EUR][1000 genomes]
rs191713	0.81[EUR][1000 genomes]
rs191714	0.82[EUR][1000 genomes]
rs191775	0.80[EUR][1000 genomes]
rs2197387	0.80[EUR][1000 genomes]
rs244380	0.81[EUR][1000 genomes]
rs2595928	0.81[EUR][1000 genomes]
rs2595930	0.84[EUR][1000 genomes]
rs2607796	0.83[EUR][1000 genomes]
rs28376988	0.81[EUR][1000 genomes]
rs361057	0.83[EUR][1000 genomes]
rs361059	0.80[EUR][1000 genomes]
rs361060	0.81[EUR][1000 genomes]
rs361061	0.81[EUR][1000 genomes]
rs361062	0.81[EUR][1000 genomes]
rs361063	0.84[EUR][1000 genomes]
rs361080	0.81[EUR][1000 genomes]
rs361081	0.81[EUR][1000 genomes]
rs361082	0.81[EUR][1000 genomes]
rs361083	0.82[EUR][1000 genomes]
rs361084	0.82[EUR][1000 genomes]
rs361088	0.84[EUR][1000 genomes]
rs361089	0.83[EUR][1000 genomes]
rs361092	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs361094	0.84[EUR][1000 genomes]
rs361097	0.83[EUR][1000 genomes]
rs385254	0.81[EUR][1000 genomes]
rs4305444	0.81[EUR][1000 genomes]
rs439720	0.82[EUR][1000 genomes]
rs470359	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs475254	0.84[EUR][1000 genomes]
rs497900	0.80[EUR][1000 genomes]
rs524164	0.84[EUR][1000 genomes]
rs550768	0.83[EUR][1000 genomes]
rs559160	0.84[EUR][1000 genomes]
rs589986	0.83[EUR][1000 genomes]
rs603723	0.84[EUR][1000 genomes]
rs618457	0.81[EUR][1000 genomes]
rs621204	0.83[EUR][1000 genomes]
rs624099	0.84[EUR][1000 genomes]
rs625468	0.84[EUR][1000 genomes]
rs635592	0.84[EUR][1000 genomes]
rs6439817	0.81[EUR][1000 genomes]
rs7643722	0.81[EUR][1000 genomes]
rs773045	0.84[EUR][1000 genomes]
rs773184	0.83[EUR][1000 genomes]
rs9864176	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs361086	PIK3CB	Cis_1M	lymphoblastoid	RTeQTL
rs361086	CEP70	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 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	chr3:138360800-138407600	Weak transcription	HUVEC	blood vessel
3	chr3:138364400-138459200	Weak transcription	Psoas Muscle	Psoas
4	chr3:138368600-138382600	Weak transcription	HSMMtube	muscle
5	chr3:138368800-138386600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr3:138368800-138392400	Weak transcription	HMEC	breast
7	chr3:138368800-138400200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr3:138368800-138422600	Weak transcription	Right Atrium	heart
9	chr3:138369000-138382600	Weak transcription	Aorta	Aorta
10	chr3:138369000-138390000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr3:138369000-138392400	Weak transcription	HSMM	muscle
12	chr3:138369000-138493000	Weak transcription	Fetal Lung	lung
13	chr3:138369200-138382600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr3:138369200-138382600	Weak transcription	Primary B cells from cord blood	blood
15	chr3:138369200-138382600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr3:138369200-138382600	Weak transcription	Fetal Kidney	kidney
17	chr3:138369200-138382600	Weak transcription	GM12878-XiMat	blood
18	chr3:138369200-138384800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr3:138369200-138391800	Weak transcription	Colon Smooth Muscle	Colon
20	chr3:138369200-138393600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:138369200-138401600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr3:138369200-138412800	Weak transcription	Hela-S3	cervix
23	chr3:138369200-138428800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr3:138369200-138435600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr3:138369400-138382600	Weak transcription	Esophagus	oesophagus
26	chr3:138369400-138387000	Weak transcription	Pancreas	Pancrea
27	chr3:138369400-138392600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr3:138369800-138382600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr3:138369800-138382600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr3:138370000-138382600	Weak transcription	Small Intestine	intestine
31	chr3:138372800-138382400	Weak transcription	Gastric	stomach
32	chr3:138372800-138382600	Weak transcription	A549	lung
33	chr3:138373000-138382200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr3:138373000-138385800	Weak transcription	NHLF	lung
35	chr3:138373000-138390400	Weak transcription	NH-A	brain
36	chr3:138373200-138382400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr3:138374200-138382600	Weak transcription	Stomach Mucosa	stomach
38	chr3:138374200-138382800	Weak transcription	NHEK	skin
39	chr3:138374200-138390600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr3:138374400-138389400	Weak transcription	Fetal Heart	heart
41	chr3:138374800-138382600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr3:138374800-138382600	Weak transcription	NHDF-Ad	bronchial
43	chr3:138374800-138392200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr3:138374800-138397000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr3:138375000-138382400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr3:138375000-138382600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr3:138375000-138382600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr3:138375000-138382600	Weak transcription	Brain Germinal Matrix	brain
49	chr3:138375000-138382600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr3:138375200-138382200	Weak transcription	Fetal Stomach	stomach

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