Variant report

Variant	rs7865529
Chromosome Location	chr9:79230108-79230109
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr9:79229982-79230540	PBDE	blood:	n/a	chr9:79230275-79230284 chr9:79230274-79230284
2	SPI1	chr9:79229957-79230404	HL-60	blood:	n/a	chr9:79230170-79230177 chr9:79230194-79230207 chr9:79230198-79230205

Variant related genes	Relation type
PRUNE2	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11144982	0.93[CEU][hapmap];0.82[EUR][1000 genomes]
rs4388513	0.93[CEU][hapmap]
rs7028529	1.00[CHB][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs72730642	0.89[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	nsv869152	chr9:78742197-79583399	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv931033	chr9:78850330-79366454	Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv893479	chr9:78971253-79275226	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv949417	chr9:79078703-79282589	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv527438	chr9:79225328-79230242	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7865529	KIAA0367	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:79223600-79230200	Weak transcription	Primary B cells from cord blood	blood
2	chr9:79224600-79239000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr9:79224600-79244400	Weak transcription	Brain Angular Gyrus	brain
4	chr9:79224800-79239600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr9:79225200-79239000	Weak transcription	Brain Anterior Caudate	brain
6	chr9:79225200-79239600	Weak transcription	Brain Substantia Nigra	brain
7	chr9:79225400-79233600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr9:79225400-79233600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr9:79225400-79239200	Weak transcription	Colon Smooth Muscle	Colon
10	chr9:79225400-79244000	Weak transcription	Brain Hippocampus Middle	brain
11	chr9:79225400-79265600	Weak transcription	Fetal Muscle Leg	muscle
12	chr9:79225600-79232400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr9:79225600-79233400	Weak transcription	HSMMtube	muscle
14	chr9:79225800-79232200	Weak transcription	Gastric	stomach
15	chr9:79225800-79232600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr9:79225800-79234000	Weak transcription	HSMM	muscle
17	chr9:79228000-79234000	Weak transcription	Aorta	Aorta
18	chr9:79228600-79230200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr9:79228800-79230200	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr9:79228800-79230800	Enhancers	HepG2	liver
21	chr9:79229000-79230200	Enhancers	Primary hematopoietic stem cells	blood
22	chr9:79229000-79230200	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr9:79229200-79230600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr9:79229400-79230200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr9:79229400-79230200	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr9:79229400-79230600	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr9:79229400-79232600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr9:79229600-79230200	Active TSS	Fetal Stomach	stomach
29	chr9:79229600-79230400	Active TSS	Stomach Mucosa	stomach
30	chr9:79229600-79230600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr9:79229600-79230600	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr9:79229800-79230200	Enhancers	GM12878-XiMat	blood
33	chr9:79229800-79230400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr9:79229800-79230400	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr9:79229800-79230400	Active TSS	Fetal Intestine Large	intestine
36	chr9:79229800-79230400	Flanking Active TSS	Fetal Intestine Small	intestine
37	chr9:79229800-79230600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr9:79229800-79230600	Flanking Active TSS	Fetal Lung	lung
39	chr9:79229800-79230600	Enhancers	Osteobl	bone
40	chr9:79229800-79230800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr9:79230000-79230200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
42	chr9:79230000-79230400	Enhancers	Primary T cells from cord blood	blood
43	chr9:79230000-79230400	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr9:79230000-79230400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr9:79230000-79230400	Active TSS	Pancreas	Pancrea
46	chr9:79230000-79230600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr9:79230000-79230600	Enhancers	Primary B cells from peripheral blood	blood
48	chr9:79230000-79230600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr9:79230000-79230600	Enhancers	Liver	Liver
50	chr9:79230000-79230800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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