Variant report

Variant	rs12339063
Chromosome Location	chr9:26978986-26978987
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10283643	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1048949	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10967595	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10967624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10967634	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10967638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10967639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10967640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10967644	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11999015	0.94[ASN][1000 genomes]
rs12001845	0.94[ASN][1000 genomes]
rs12002068	0.94[ASN][1000 genomes]
rs12003612	0.94[ASN][1000 genomes]
rs12338678	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12338827	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12345094	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12349359	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16910832	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16910834	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17694121	0.94[ASN][1000 genomes]
rs17694140	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17694300	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17694306	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17694549	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17755887	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17755911	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17756221	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28525632	0.86[EUR][1000 genomes]
rs41271173	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41272237	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs41272239	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55902149	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59478807	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59757728	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61331313	0.94[ASN][1000 genomes]
rs7037860	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73433963	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73643117	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73643119	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73643120	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73643125	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73643128	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]

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	nsv528614	chr9:26893662-27074233	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv517269	chr9:26945976-27137242	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv892862	chr9:26956663-27190655	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:26957000-26980800	Weak transcription	Lung	lung
2	chr9:26957000-26983200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr9:26957000-26984400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr9:26957000-27024000	Weak transcription	Esophagus	oesophagus
5	chr9:26957200-26980800	Weak transcription	Fetal Intestine Large	intestine
6	chr9:26957200-26980800	Weak transcription	Fetal Stomach	stomach
7	chr9:26957200-26982600	Weak transcription	Fetal Muscle Leg	muscle
8	chr9:26957200-26982600	Weak transcription	Left Ventricle	heart
9	chr9:26957200-26983200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr9:26957200-26983200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr9:26957200-26984400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr9:26957200-26984400	Weak transcription	Primary B cells from peripheral blood	blood
13	chr9:26957200-26984600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr9:26957200-26984800	Weak transcription	Primary B cells from cord blood	blood
15	chr9:26957200-26984800	Weak transcription	Fetal Thymus	thymus
16	chr9:26957200-27026600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr9:26957200-27040000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr9:26957400-26980800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr9:26957400-26982800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr9:26957400-26983200	Weak transcription	Brain Anterior Caudate	brain
21	chr9:26957400-26983400	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr9:26957400-26984600	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr9:26957600-26979400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr9:26957600-26982800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr9:26957600-26983200	Weak transcription	Fetal Kidney	kidney
26	chr9:26957600-26983400	Weak transcription	Brain Angular Gyrus	brain
27	chr9:26957600-26984800	Weak transcription	Brain Hippocampus Middle	brain
28	chr9:26957800-26984600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr9:26958600-26981000	Weak transcription	Ovary	ovary
30	chr9:26962200-26981600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr9:26962200-26986400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr9:26962400-26984600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr9:26962400-26985000	Weak transcription	Brain Substantia Nigra	brain
34	chr9:26962600-26984600	Weak transcription	HSMM	muscle
35	chr9:26963800-26983200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr9:26966400-26984600	Weak transcription	Fetal Brain Male	brain
37	chr9:26969000-26991200	Weak transcription	NHDF-Ad	bronchial
38	chr9:26969600-26986600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr9:26970400-26982600	Weak transcription	Fetal Lung	lung
40	chr9:26970400-26983200	Weak transcription	Primary T cells from cord blood	blood
41	chr9:26970400-26984200	Weak transcription	Dnd41	blood
42	chr9:26970800-26990000	Weak transcription	Spleen	Spleen
43	chr9:26971000-26980800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr9:26971000-26983200	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr9:26971600-26982600	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr9:26972000-26981400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr9:26972200-26986200	Weak transcription	Pancreas	Pancrea
48	chr9:26972200-26995000	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr9:26972800-26986800	Weak transcription	Aorta	Aorta
50	chr9:26972800-26990600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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