Variant report

Variant	rs10511493
Chromosome Location	chr9:8361136-8361137
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12551994	0.82[ASN][1000 genomes]
rs12552493	0.89[CHB][hapmap];0.82[CHD][hapmap];0.83[GIH][hapmap]
rs12554953	0.93[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12555585	0.89[CHB][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes]
rs12682697	0.92[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs12682993	0.93[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs12684395	0.93[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs16927547	0.86[CEU][hapmap];0.89[CHB][hapmap];0.89[CHD][hapmap];0.81[GIH][hapmap];0.88[TSI][hapmap]
rs20514	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.90[MKK][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3739578	0.93[CEU][hapmap]
rs3780336	0.86[CEU][hapmap];0.89[CHB][hapmap];0.92[CHD][hapmap];0.90[GIH][hapmap];0.85[JPT][hapmap];0.81[MKK][hapmap];0.88[TSI][hapmap]
rs3847288	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs3847291	1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];0.82[ASN][1000 genomes]
rs4742486	0.90[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60965360	0.80[ASN][1000 genomes]
rs72691027	0.93[ASN][1000 genomes]
rs72691034	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72691035	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72710309	0.81[ASN][1000 genomes]
rs7848455	0.81[ASN][1000 genomes]
rs7848705	0.93[CEU][hapmap];0.89[CHB][hapmap];0.92[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.88[TSI][hapmap];0.81[ASN][1000 genomes]
rs7848818	0.93[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs7873084	0.86[CEU][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	nsv892225	chr9:8345072-8379313	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10511493	KIAA2026	cis	cerebellum	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8330200-8364200	Weak transcription	Brain Anterior Caudate	brain
2	chr9:8339600-8364400	Weak transcription	Brain Germinal Matrix	brain
3	chr9:8339600-8397600	Weak transcription	Fetal Muscle Leg	muscle
4	chr9:8340200-8366400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr9:8340400-8364600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr9:8340800-8364400	Weak transcription	Fetal Brain Female	brain
7	chr9:8341800-8372600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr9:8350000-8363800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr9:8350200-8364600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr9:8350200-8372400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:8350400-8363200	Weak transcription	Brain Hippocampus Middle	brain
12	chr9:8350400-8364000	Weak transcription	Fetal Heart	heart
13	chr9:8353200-8364200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr9:8357200-8364200	Weak transcription	Fetal Lung	lung
15	chr9:8357200-8374200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr9:8357600-8381800	Weak transcription	Aorta	Aorta
17	chr9:8358600-8366800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr9:8360000-8361200	Weak transcription	Stomach Mucosa	stomach
19	chr9:8360600-8361400	Enhancers	HUVEC	blood vessel
20	chr9:8360800-8362600	Enhancers	Fetal Intestine Small	intestine
21	chr9:8361000-8362600	Enhancers	Fetal Intestine Large	intestine

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