Variant report

Variant	rs991250
Chromosome Location	chr9:8380517-8380518
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10435748	0.82[ASN][1000 genomes]
rs10815842	0.81[JPT][hapmap]
rs10815844	0.84[JPT][hapmap]
rs10815851	0.95[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.86[TSI][hapmap];0.86[ASN][1000 genomes]
rs10815852	0.90[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs10815872	0.89[CEU][hapmap]
rs10977017	0.94[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs10977018	0.94[ASW][hapmap];0.80[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.80[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs10977019	1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs10977020	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10977027	0.83[ASN][1000 genomes]
rs10977047	0.89[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];0.90[EUR][1000 genomes]
rs10977048	0.92[EUR][1000 genomes]
rs10977049	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10977050	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10977058	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10977088	0.90[CEU][hapmap];0.81[CHB][hapmap];0.85[EUR][1000 genomes]
rs1156793	0.91[CHD][hapmap];0.81[GIH][hapmap];0.81[JPT][hapmap]
rs1156794	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs12352188	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12553563	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1392520	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1392521	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1392522	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1392524	0.91[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.86[TSI][hapmap];0.88[ASN][1000 genomes]
rs1500324	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs1500328	0.95[JPT][hapmap]
rs16927841	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs1875239	0.91[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.91[GIH][hapmap];0.82[MEX][hapmap];0.88[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1909755	0.85[JPT][hapmap]
rs2221184	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2291958	0.81[JPT][hapmap]
rs3739577	0.81[CEU][hapmap];0.83[EUR][1000 genomes]
rs3847293	0.91[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.88[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4742492	0.81[JPT][hapmap]
rs4742498	0.94[CHB][hapmap]
rs7030727	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7031533	0.81[JPT][hapmap]
rs72614088	0.82[EUR][1000 genomes]
rs7854520	0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs989814	0.81[JPT][hapmap]

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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs991250	IL33	cis	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8339600-8397600	Weak transcription	Fetal Muscle Leg	muscle
2	chr9:8357600-8381800	Weak transcription	Aorta	Aorta
3	chr9:8361400-8401600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr9:8364600-8382200	Weak transcription	Ovary	ovary
5	chr9:8364800-8401600	Weak transcription	Brain Germinal Matrix	brain
6	chr9:8365000-8395400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr9:8365200-8386800	Weak transcription	Brain Anterior Caudate	brain
8	chr9:8365600-8386200	Weak transcription	Brain Angular Gyrus	brain
9	chr9:8365600-8386200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr9:8366800-8383000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr9:8367200-8394600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr9:8367200-8399800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr9:8373000-8402200	Weak transcription	Fetal Kidney	kidney
14	chr9:8373600-8385800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr9:8374000-8394400	Weak transcription	Fetal Heart	heart
16	chr9:8374200-8382200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr9:8374400-8380600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr9:8374600-8386800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr9:8376600-8386800	Weak transcription	Brain Hippocampus Middle	brain
20	chr9:8376800-8386600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr9:8376800-8393200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr9:8376800-8401800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr9:8377800-8383400	Weak transcription	Fetal Brain Male	brain
24	chr9:8377800-8406400	Weak transcription	Fetal Brain Female	brain
25	chr9:8379400-8381800	Weak transcription	Fetal Intestine Large	intestine
26	chr9:8379600-8382000	Weak transcription	Fetal Lung	lung

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