Variant report

Variant	rs1061495
Chromosome Location	chr9:117804544-117804545
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1556220	0.84[CHD][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs16932154	0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs2094794	0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs2274750	0.84[CHD][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs4300068	1.00[ASN][1000 genomes]
rs7847271	0.91[JPT][hapmap]

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	nsv831696	chr9:117701582-117874150	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv615250	chr9:117768021-118012841	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv916912	chr9:117770039-118014140	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv1826575	chr9:117787173-117805719	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
5	nsv519131	chr9:117796986-117804667	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1061495	POLE3	cis	parietal	SCAN

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117781800-117808600	Weak transcription	Fetal Intestine Small	intestine
2	chr9:117782400-117848200	Weak transcription	Brain Substantia Nigra	brain
3	chr9:117789000-117808600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:117791600-117833200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr9:117792800-117815000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr9:117797400-117807400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
7	chr9:117798200-117805000	Weak transcription	HSMM	muscle
8	chr9:117798800-117804800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr9:117799200-117805000	Weak transcription	HSMMtube	muscle
10	chr9:117799200-117819800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr9:117799400-117817000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr9:117799800-117804600	Strong transcription	NHEK	skin
13	chr9:117800000-117806600	Strong transcription	NH-A	brain
14	chr9:117800600-117808600	Weak transcription	Fetal Intestine Large	intestine
15	chr9:117800800-117804600	Strong transcription	Osteobl	bone
16	chr9:117800800-117805200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr9:117800800-117805600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr9:117800800-117825000	Weak transcription	Fetal Muscle Leg	muscle
19	chr9:117800800-117825200	Weak transcription	Fetal Muscle Trunk	muscle
20	chr9:117801000-117812400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr9:117801000-117819200	Weak transcription	HMEC	breast
22	chr9:117801800-117820200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr9:117802200-117848200	Weak transcription	Spleen	Spleen
24	chr9:117802400-117806000	Genic enhancers	Colon Smooth Muscle	Colon
25	chr9:117802600-117812400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr9:117803200-117805000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr9:117803200-117808600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr9:117803400-117804600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr9:117803400-117804600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr9:117803400-117804600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr9:117803400-117805600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr9:117803400-117805800	Weak transcription	Fetal Stomach	stomach
33	chr9:117803400-117806200	Weak transcription	Fetal Lung	lung
34	chr9:117803400-117808400	Weak transcription	NHLF	lung
35	chr9:117803400-117810400	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr9:117803400-117812000	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr9:117803400-117820000	Weak transcription	Aorta	Aorta
38	chr9:117803400-117820600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr9:117803600-117805200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr9:117803600-117806400	Strong transcription	Stomach Smooth Muscle	stomach
41	chr9:117803600-117808200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr9:117803600-117820200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr9:117803600-117825400	Weak transcription	Fetal Kidney	kidney
44	chr9:117804200-117808200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr9:117804200-117808400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr9:117804400-117804600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr9:117804400-117804800	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr9:117804400-117805600	Strong transcription	NHDF-Ad	bronchial

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