Variant report

Variant	rs2133790
Chromosome Location	chr9:8402162-8402163
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10977081	1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[ASN][1000 genomes]
rs10977086	0.93[JPT][hapmap]
rs12005474	1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[ASN][1000 genomes]
rs12338308	1.00[CHB][hapmap];0.92[JPT][hapmap];0.96[ASN][1000 genomes]
rs12348387	0.86[JPT][hapmap]
rs12349376	0.86[JPT][hapmap]
rs12352293	1.00[CHB][hapmap];0.92[JPT][hapmap];0.96[ASN][1000 genomes]
rs12375761	0.82[YRI][hapmap]
rs1359115	0.86[JPT][hapmap]
rs1392523	1.00[CHB][hapmap];0.93[JPT][hapmap];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1500325	0.82[YRI][hapmap]
rs1500335	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1500336	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2047594	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2047595	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2133791	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2173710	0.81[JPT][hapmap]
rs2296094	0.84[JPT][hapmap]
rs2296095	0.84[JPT][hapmap]
rs4146133	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4742491	0.82[YRI][hapmap]
rs7028474	0.86[JPT][hapmap]
rs7030220	0.86[JPT][hapmap]
rs72691046	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs72691051	0.96[ASN][1000 genomes]
rs72691052	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs72691074	0.95[ASN][1000 genomes]
rs7847051	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7852683	0.86[JPT][hapmap]
rs7876037	0.86[JPT][hapmap]
rs969005	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9792615	0.86[JPT][hapmap]
rs9792633	0.86[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

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8373000-8402200	Weak transcription	Fetal Kidney	kidney
2	chr9:8377800-8406400	Weak transcription	Fetal Brain Female	brain
3	chr9:8383600-8405200	Weak transcription	Aorta	Aorta
4	chr9:8389600-8451000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr9:8394000-8424400	Weak transcription	Fetal Lung	lung
6	chr9:8396000-8410400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr9:8396800-8403000	Weak transcription	Brain Anterior Caudate	brain
8	chr9:8401200-8402600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr9:8401400-8402400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr9:8401600-8402200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr9:8401600-8402400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr9:8401600-8402400	Enhancers	Brain Cingulate Gyrus	brain
13	chr9:8401600-8402400	Enhancers	Brain Germinal Matrix	brain
14	chr9:8401600-8402400	Enhancers	Brain Substantia Nigra	brain
15	chr9:8401600-8402400	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr9:8401600-8402600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr9:8401600-8402600	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr9:8401800-8402200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr9:8401800-8402200	Enhancers	Brain Angular Gyrus	brain
20	chr9:8401800-8402400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr9:8401800-8402400	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr9:8401800-8402400	Enhancers	Brain Hippocampus Middle	brain
23	chr9:8401800-8402600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr9:8402000-8402200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr9:8402000-8402600	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr9:8402000-8402800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr9:8402000-8408000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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