Variant report

Variant	rs8114
Chromosome Location	chr9:71396239-71396240
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:71339890..71342700-chr9:71395822..71397437,2	K562	blood:
2	chr16:57570187..57572326-chr9:71393434..71396410,2	MCF-7	breast:
3	chr9:71392687..71396802-chr9:71403243..71407898,5	MCF-7	breast:
4	chr9:71395139..71397780-chr9:71401800..71403329,2	MCF-7	breast:
5	chr9:71357154..71359879-chr9:71394031..71396553,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000107242	Chromatin interaction
ENSG00000135736	Chromatin interaction
ENSG00000236998	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10511964	1.00[CHB][hapmap];0.94[CHD][hapmap];0.80[GIH][hapmap];0.82[JPT][hapmap];0.96[ASN][1000 genomes]
rs10735625	0.84[CHB][hapmap]
rs10869442	0.83[MEX][hapmap]
rs11143636	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs12345874	0.90[ASN][1000 genomes]
rs1537885	0.84[CHB][hapmap]
rs17391162	0.84[CHB][hapmap]
rs17482181	0.84[CHB][hapmap]
rs2152647	0.83[MEX][hapmap]
rs4504703	0.91[GIH][hapmap];0.87[MEX][hapmap];0.85[TSI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs58384767	0.91[ASN][1000 genomes]
rs59550441	0.96[ASN][1000 genomes]
rs7031263	0.84[CHB][hapmap]
rs7035163	0.91[GIH][hapmap];0.85[TSI][hapmap];0.83[EUR][1000 genomes]
rs7049222	0.84[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs7871676	1.00[CHB][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs945573	0.80[ASN][1000 genomes]
rs952590	1.00[CHB][hapmap];0.82[JPT][hapmap];0.96[ASN][1000 genomes]
rs972058	0.83[CHB][hapmap];0.91[ASN][1000 genomes]
rs972059	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032210	chr9:71130848-71511987	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	esv2422258	chr9:71234845-71663340	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1017903	chr9:71276951-71690579	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8114	PTAR1	cis	cerebellum	SCAN
rs8114	TJP2	cis	parietal	SCAN

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71394000-71396600	Active TSS	K562	blood
2	chr9:71394200-71396400	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr9:71394200-71396400	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr9:71394200-71396800	Active TSS	Psoas Muscle	Psoas
5	chr9:71394400-71396400	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr9:71394600-71396800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr9:71394600-71396800	Active TSS	Right Ventricle	heart
8	chr9:71394800-71396800	Active TSS	NHLF	lung
9	chr9:71395200-71396400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr9:71395200-71397800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr9:71395400-71396400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr9:71395400-71396400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr9:71395400-71396400	Flanking Active TSS	Duodenum Mucosa	Duodenum
14	chr9:71395400-71396800	Active TSS	Right Atrium	heart
15	chr9:71395400-71397200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr9:71395600-71396400	Flanking Active TSS	Liver	Liver
17	chr9:71395600-71396400	Flanking Active TSS	Fetal Brain Female	brain
18	chr9:71395600-71396400	Flanking Active TSS	Dnd41	blood
19	chr9:71395600-71396600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr9:71395600-71400200	Flanking Active TSS	Brain Germinal Matrix	brain
21	chr9:71395800-71396400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr9:71395800-71396400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr9:71395800-71396400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr9:71395800-71396400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr9:71395800-71396400	Flanking Active TSS	Colon Smooth Muscle	Colon
26	chr9:71395800-71396400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr9:71395800-71396400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr9:71395800-71396400	Flanking Active TSS	HepG2	liver
29	chr9:71395800-71396400	Flanking Active TSS	HMEC	breast
30	chr9:71395800-71396600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr9:71395800-71396800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr9:71395800-71397000	Weak transcription	Gastric	stomach
33	chr9:71395800-71398800	Enhancers	Small Intestine	intestine
34	chr9:71395800-71400200	Enhancers	Primary B cells from peripheral blood	blood
35	chr9:71396000-71396400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr9:71396000-71396400	Flanking Active TSS	NHDF-Ad	bronchial
37	chr9:71396000-71396600	Active TSS	Fetal Intestine Small	intestine
38	chr9:71396000-71396800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr9:71396000-71396800	Weak transcription	Esophagus	oesophagus
40	chr9:71396000-71396800	Weak transcription	Placenta	Placenta
41	chr9:71396000-71396800	Weak transcription	Lung	lung
42	chr9:71396000-71396800	Weak transcription	Pancreas	Pancrea
43	chr9:71396000-71396800	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr9:71396000-71397000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr9:71396000-71397000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr9:71396000-71397000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr9:71396000-71397200	Flanking Active TSS	GM12878-XiMat	blood
48	chr9:71396000-71397400	Enhancers	Primary B cells from cord blood	blood
49	chr9:71396000-71397800	Enhancers	Brain Substantia Nigra	brain
50	chr9:71396000-71398000	Enhancers	Stomach Mucosa	stomach

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