Variant report

Variant	rs13286274
Chromosome Location	chr9:8476459-8476460
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10115201	0.85[CHB][hapmap]
rs10115554	0.85[CHB][hapmap]
rs10124277	0.85[CHB][hapmap]
rs10977154	0.85[CHB][hapmap];0.84[ASN][1000 genomes]
rs1323592	0.85[CHB][hapmap];1.00[YRI][hapmap];0.82[ASN][1000 genomes]
rs13283150	0.85[CHB][hapmap];0.82[ASN][1000 genomes]
rs13286908	0.88[MEX][hapmap]
rs13290896	0.85[CHB][hapmap]
rs13294270	1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.96[ASN][1000 genomes]
rs13296910	0.88[MEX][hapmap]
rs13301979	1.00[ASW][hapmap]
rs16928002	0.85[CHB][hapmap];0.86[ASN][1000 genomes]
rs16928048	1.00[YRI][hapmap]
rs17650289	1.00[ASW][hapmap];0.88[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs2296102	0.85[CHB][hapmap]
rs34704859	0.83[AMR][1000 genomes]
rs35777094	0.80[ASN][1000 genomes]
rs35929428	0.86[ASN][1000 genomes]
rs4338166	0.85[CHB][hapmap];0.88[ASN][1000 genomes]
rs4409447	1.00[ASW][hapmap];0.88[MEX][hapmap]
rs4495488	1.00[ASW][hapmap]
rs62534023	0.98[ASN][1000 genomes]
rs62534025	0.88[ASN][1000 genomes]
rs62534026	0.88[ASN][1000 genomes]
rs62534027	0.88[ASN][1000 genomes]
rs7863060	0.88[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv8414	chr9:7827373-8511613	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1031472	chr9:8250901-8712547	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1022796	chr9:8360729-9110046	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv892226	chr9:8435525-8522326	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13286274	KIAA2026	cis	parietal	SCAN

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8419200-8491000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr9:8420600-8557600	Weak transcription	Aorta	Aorta
3	chr9:8424200-8485000	Weak transcription	Fetal Kidney	kidney
4	chr9:8434200-8485200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr9:8442200-8522200	Weak transcription	Liver	Liver
6	chr9:8448000-8494800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr9:8451400-8492000	Weak transcription	Psoas Muscle	Psoas
8	chr9:8464600-8494200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr9:8465600-8482600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr9:8465800-8484000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr9:8468400-8478000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr9:8468600-8484000	Weak transcription	Ovary	ovary
13	chr9:8471000-8477600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr9:8471000-8479200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr9:8473200-8483400	Weak transcription	Fetal Stomach	stomach
16	chr9:8473600-8477400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr9:8473600-8491600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr9:8474000-8484000	Weak transcription	Brain Angular Gyrus	brain
19	chr9:8474200-8480000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr9:8474400-8478000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr9:8474400-8484800	Weak transcription	Fetal Heart	heart
22	chr9:8474400-8485200	Weak transcription	Brain Hippocampus Middle	brain
23	chr9:8475200-8478800	Weak transcription	Brain Anterior Caudate	brain
24	chr9:8475200-8482600	Weak transcription	Dnd41	blood
25	chr9:8475400-8483400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr9:8475600-8477000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr9:8475600-8483400	Weak transcription	Brain Substantia Nigra	brain
28	chr9:8475800-8476600	ZNF genes & repeats	Fetal Brain Female	brain
29	chr9:8475800-8476800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
30	chr9:8476000-8476600	Strong transcription	Fetal Brain Male	brain
31	chr9:8476000-8476800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr9:8476000-8476800	Strong transcription	Fetal Muscle Trunk	muscle
33	chr9:8476000-8477000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr9:8476000-8477000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
35	chr9:8476200-8476800	Strong transcription	Fetal Lung	lung
36	chr9:8476200-8477000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr9:8476400-8477600	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr9:8476400-8478000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr9:8476400-8482200	Weak transcription	Brain Germinal Matrix	brain
40	chr9:8476400-8483400	Weak transcription	Fetal Muscle Leg	muscle
41	chr9:8476400-8483600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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