Variant report

Variant	rs17466150
Chromosome Location	chr12:40679254-40679255
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10506149	0.88[YRI][hapmap]
rs10506153	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11564128	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11564175	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11564177	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11564203	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11564204	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11564205	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11564207	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11564267	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11829088	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11834950	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1491936	0.85[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17443552	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17444096	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17444202	1.00[JPT][hapmap]
rs17461637	1.00[JPT][hapmap]
rs17465912	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17466339	0.93[AMR][1000 genomes]
rs17466430	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17491061	0.89[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17520251	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17520278	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1907632	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1907633	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60776971	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61007767	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73275761	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044685	chr12:40574460-40771612	Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1042967	chr12:40629636-40710319	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40620800-40704200	Weak transcription	Esophagus	oesophagus
2	chr12:40622800-40708800	Weak transcription	Left Ventricle	heart
3	chr12:40630600-40686400	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr12:40640200-40680400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:40640600-40727400	Weak transcription	Spleen	Spleen
6	chr12:40640600-40768200	Weak transcription	Pancreas	Pancrea
7	chr12:40642200-40682400	Weak transcription	Brain Hippocampus Middle	brain
8	chr12:40656800-40746400	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr12:40659400-40682200	Weak transcription	Brain Anterior Caudate	brain
10	chr12:40659400-40686400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr12:40659600-40680000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:40659600-40680200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:40659600-40694600	Weak transcription	Psoas Muscle	Psoas
14	chr12:40659600-40711200	Weak transcription	Aorta	Aorta
15	chr12:40661000-40683400	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr12:40661600-40683600	Weak transcription	Colon Smooth Muscle	Colon
17	chr12:40661600-40696400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr12:40670400-40684000	Weak transcription	Brain Angular Gyrus	brain
19	chr12:40670800-40683600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr12:40671200-40681600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr12:40672800-40681000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr12:40673400-40713400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr12:40674400-40760400	Weak transcription	Lung	lung
24	chr12:40676000-40684600	Strong transcription	Primary B cells from cord blood	blood
25	chr12:40676400-40683600	Strong transcription	Primary B cells from peripheral blood	blood
26	chr12:40677000-40712200	Weak transcription	Fetal Muscle Leg	muscle
27	chr12:40677200-40682400	Strong transcription	Adipose Nuclei	Adipose
28	chr12:40677400-40683400	Strong transcription	Liver	Liver
29	chr12:40677800-40683000	Strong transcription	Stomach Smooth Muscle	stomach
30	chr12:40678800-40689400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr12:40679000-40679400	Weak transcription	A549	lung
32	chr12:40679000-40680000	Weak transcription	Ovary	ovary
33	chr12:40679000-40696200	Weak transcription	Right Ventricle	heart
34	chr12:40679200-40680200	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr12:40679200-40699400	Weak transcription	Fetal Kidney	kidney

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