Variant report

Variant	rs10511499
Chromosome Location	chr9:8521121-8521122
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10117042	0.86[CHB][hapmap];0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs10120190	0.86[CHB][hapmap];0.85[CHD][hapmap];0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs10123125	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10123138	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10124867	0.85[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs10758978	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10758979	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[ASN][1000 genomes]
rs10758980	1.00[CHB][hapmap];0.83[JPT][hapmap];0.94[ASN][1000 genomes]
rs10815883	0.93[CHB][hapmap];0.83[JPT][hapmap]
rs10815896	0.86[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs10815898	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10815900	0.86[CHB][hapmap];0.83[ASN][1000 genomes]
rs10815905	0.93[ASN][1000 genomes]
rs10815906	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[ASN][1000 genomes]
rs10815907	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10815908	1.00[CHB][hapmap];0.83[JPT][hapmap];0.93[ASN][1000 genomes]
rs10977146	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs10977169	0.85[ASN][1000 genomes]
rs10977170	0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs10977181	0.87[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10977189	0.88[ASN][1000 genomes]
rs10977192	0.85[CHB][hapmap]
rs12340211	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12341045	0.85[ASN][1000 genomes]
rs12341078	0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs12344975	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12683581	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs12686431	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs17650044	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs1998513	0.86[CHB][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs1998515	0.92[CHB][hapmap];0.86[ASN][1000 genomes]
rs2273998	0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3763652	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3763653	0.93[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.97[ASN][1000 genomes]
rs6477313	0.93[CHB][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs7868790	0.90[LWK][hapmap]

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	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
2	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
3	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
4	nsv892228	chr9:8482778-8703733	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv831504	chr9:8496277-8665773	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8420600-8557600	Weak transcription	Aorta	Aorta
2	chr9:8442200-8522200	Weak transcription	Liver	Liver
3	chr9:8483800-8524800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:8486000-8522200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr9:8486200-8522800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr9:8486200-8523200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:8486200-8531600	Weak transcription	Fetal Kidney	kidney
8	chr9:8487000-8521200	Weak transcription	Brain Germinal Matrix	brain
9	chr9:8487000-8521200	Weak transcription	Dnd41	blood
10	chr9:8492400-8528800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr9:8493000-8521200	Weak transcription	Fetal Muscle Leg	muscle
12	chr9:8493200-8523200	Weak transcription	Fetal Stomach	stomach
13	chr9:8493200-8531200	Weak transcription	Fetal Brain Female	brain
14	chr9:8494200-8531200	Weak transcription	Fetal Brain Male	brain
15	chr9:8509400-8528600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr9:8509600-8521200	Weak transcription	Brain Hippocampus Middle	brain
17	chr9:8509800-8521200	Weak transcription	Brain Substantia Nigra	brain
18	chr9:8509800-8532800	Weak transcription	Brain Angular Gyrus	brain
19	chr9:8510000-8521200	Weak transcription	Brain Anterior Caudate	brain
20	chr9:8513200-8523000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr9:8513600-8521200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr9:8517000-8522400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr9:8517000-8523600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr9:8518000-8528600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr9:8518200-8526400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr9:8518400-8521200	Weak transcription	Fetal Lung	lung
27	chr9:8518400-8526000	Weak transcription	Ovary	ovary
28	chr9:8518400-8533800	Weak transcription	Primary hematopoietic stem cells	blood
29	chr9:8518400-8534000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr9:8518400-8555200	Weak transcription	Fetal Muscle Trunk	muscle
31	chr9:8519800-8531600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr9:8520000-8524000	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr9:8520000-8531200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr9:8520400-8521200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr9:8520400-8522400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr9:8520400-8522600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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