Variant report

Variant	rs13326852
Chromosome Location	chr3:120166480-120166481
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11712887	0.88[EUR][1000 genomes]
rs35547467	0.86[EUR][1000 genomes]
rs4676791	1.00[CHB][hapmap]
rs6768839	1.00[JPT][hapmap];0.84[AMR][1000 genomes]
rs6805634	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949589	chr3:119560606-120175917	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv1012127	chr3:120015620-120272893	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv536707	chr3:120015620-120272893	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1006428	chr3:120015620-120421982	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	esv3369381	chr3:120066425-120425510	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	esv3350409	chr3:120066445-120425480	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13326852	UPK1B	cis	parietal	SCAN

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120138200-120167800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr3:120138200-120169200	Weak transcription	Gastric	stomach
3	chr3:120145800-120168800	Weak transcription	Pancreas	Pancrea
4	chr3:120153000-120167600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:120155800-120168400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr3:120156600-120168800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr3:120158000-120167600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr3:120158200-120167400	Weak transcription	Brain Germinal Matrix	brain
9	chr3:120158800-120167400	Weak transcription	A549	lung
10	chr3:120160000-120167400	Weak transcription	HMEC	breast
11	chr3:120160000-120167600	Weak transcription	NHEK	skin
12	chr3:120160600-120167400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:120160800-120167400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr3:120160800-120167600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:120161000-120167400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr3:120161200-120167400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr3:120162200-120166800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr3:120162200-120166800	Genic enhancers	NH-A	brain
19	chr3:120162200-120168800	Weak transcription	Esophagus	oesophagus
20	chr3:120163000-120169000	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr3:120163800-120166600	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
22	chr3:120163800-120167800	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:120164600-120166600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr3:120164600-120166600	Enhancers	Aorta	Aorta
25	chr3:120164600-120166600	Genic enhancers	Left Ventricle	heart
26	chr3:120164600-120166800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr3:120164600-120166800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr3:120164600-120167400	Genic enhancers	Fetal Muscle Leg	muscle
29	chr3:120164600-120167400	Genic enhancers	Fetal Stomach	stomach
30	chr3:120164800-120167800	Enhancers	Placenta Amnion	Placenta Amnion
31	chr3:120165000-120166600	Genic enhancers	Fetal Lung	lung
32	chr3:120165000-120168400	Transcr. at gene 5' and 3'	Osteobl	bone
33	chr3:120165200-120166600	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr3:120165200-120166800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr3:120165200-120166800	Genic enhancers	HUVEC	blood vessel
36	chr3:120165400-120166600	Genic enhancers	HUES6 Cell Line	embryonic stem cell
37	chr3:120165400-120167000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr3:120165600-120167400	Weak transcription	Brain Anterior Caudate	brain
39	chr3:120165600-120167600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr3:120165800-120166600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr3:120165800-120166600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr3:120165800-120166600	Flanking Active TSS	Right Atrium	heart
43	chr3:120165800-120166600	Transcr. at gene 5' and 3'	NHLF	lung
44	chr3:120165800-120167000	Genic enhancers	HUES48 Cell Line	embryonic stem cell
45	chr3:120165800-120167400	Genic enhancers	Fetal Muscle Trunk	muscle
46	chr3:120165800-120167600	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr3:120166000-120166600	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr3:120166000-120166600	Flanking Active TSS	Colon Smooth Muscle	Colon
49	chr3:120166000-120166600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr3:120166000-120166800	Genic enhancers	H1 Cell Line	embryonic stem cell

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