Variant report

Variant	rs13314286
Chromosome Location	chr3:137925562-137925563
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:137916543..137919143-chr3:137923887..137925761,2	K562	blood:
2	chr3:137917643..137919205-chr3:137923887..137926234,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17282669	1.00[ASW][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2170310	0.92[EUR][1000 genomes]
rs2291093	0.96[CEU][hapmap]
rs2346746	1.00[ASW][hapmap];0.88[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9809367	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530056	chr3:137312356-138161861	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2757890	chr3:137611789-137933835	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv2759180	chr3:137611789-137933835	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv998106	chr3:137851198-137934610	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	nsv877536	chr3:137870523-137970907	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13314286	PIK3CB	cis	parietal	SCAN
rs13314286	SR140	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:137907600-137929400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:137907600-137941600	Weak transcription	Lung	lung
3	chr3:137907600-137942200	Weak transcription	Pancreas	Pancrea
4	chr3:137907600-137942400	Weak transcription	Spleen	Spleen
5	chr3:137907800-137941000	Weak transcription	Fetal Kidney	kidney
6	chr3:137908000-137929200	Weak transcription	NHLF	lung
7	chr3:137908000-137940400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr3:137908200-137940600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr3:137908400-137929200	Weak transcription	Osteobl	bone
10	chr3:137908400-137941600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr3:137908400-137942200	Weak transcription	NHDF-Ad	bronchial
12	chr3:137908400-137942400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr3:137908400-137956200	Weak transcription	A549	lung
14	chr3:137908800-137931000	Weak transcription	HUVEC	blood vessel
15	chr3:137908800-137941800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr3:137908800-137942200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr3:137909000-137932000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:137910600-137935800	Weak transcription	Dnd41	blood
19	chr3:137910600-137941600	Weak transcription	Hela-S3	cervix
20	chr3:137910800-137928400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr3:137911000-137926600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:137911000-137941000	Weak transcription	Placenta	Placenta
23	chr3:137911000-137942400	Weak transcription	Brain Germinal Matrix	brain
24	chr3:137911800-137941600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr3:137912000-137941600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr3:137912400-137942400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr3:137914000-137926000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr3:137914800-137940600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr3:137915000-137927200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr3:137915000-137942000	Weak transcription	Fetal Brain Male	brain
31	chr3:137915200-137928200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr3:137915200-137929200	Weak transcription	Fetal Brain Female	brain
33	chr3:137915200-137931600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr3:137915400-137936400	Weak transcription	HMEC	breast
35	chr3:137915400-137941800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr3:137916000-137932000	Weak transcription	NHEK	skin
37	chr3:137916000-137941400	Weak transcription	Fetal Intestine Large	intestine
38	chr3:137916200-137931400	Weak transcription	Fetal Stomach	stomach
39	chr3:137916200-137939400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr3:137916400-137935800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr3:137916600-137925600	Weak transcription	Primary B cells from peripheral blood	blood
42	chr3:137917000-137927000	Weak transcription	Fetal Intestine Small	intestine
43	chr3:137917000-137936000	Weak transcription	HepG2	liver
44	chr3:137917200-137925600	Weak transcription	Primary B cells from cord blood	blood
45	chr3:137918600-137936800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr3:137918600-137941800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr3:137919200-137964800	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr3:137919600-137928000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr3:137919600-137928600	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr3:137919600-137932800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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