Variant report

Variant	rs12466546
Chromosome Location	chr2:134525800-134525801
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10193797	0.88[ASN][1000 genomes]
rs10496709	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12464809	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12465737	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12467346	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12472423	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13427527	0.86[ASN][1000 genomes]
rs13429336	0.82[ASN][1000 genomes]
rs1446748	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1446749	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1470510	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1562349	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16828705	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16828728	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17767728	0.81[ASN][1000 genomes]
rs17768541	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17819620	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1867894	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1992783	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1992784	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2321287	0.85[ASN][1000 genomes]
rs34163450	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35593895	0.84[ASN][1000 genomes]
rs4369917	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4369918	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55715603	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55787899	0.84[ASN][1000 genomes]
rs55932202	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56111185	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56160327	0.84[ASN][1000 genomes]
rs56341649	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58457553	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61542977	0.84[ASN][1000 genomes]
rs6706052	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6709830	0.83[ASN][1000 genomes]
rs6740472	0.83[ASN][1000 genomes]
rs6754879	0.81[ASN][1000 genomes]
rs72843245	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72843247	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72843252	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72843260	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72843263	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72843280	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs921087	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1006101	chr2:134263288-134973917	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1013713	chr2:134322236-134644574	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv535931	chr2:134322236-134644574	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr2:134523000-134526400	Enhancers	Liver	Liver
2	chr2:134523000-134526400	Enhancers	Fetal Heart	heart
3	chr2:134523600-134532400	Weak transcription	Right Ventricle	heart
4	chr2:134524000-134529400	Weak transcription	Adipose Nuclei	Adipose
5	chr2:134524000-134530800	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:134524000-134531200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:134524200-134525800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:134524200-134526000	Weak transcription	Fetal Lung	lung
9	chr2:134524200-134526000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:134524200-134531600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:134524400-134526000	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:134524400-134526200	Weak transcription	Brain Anterior Caudate	brain
13	chr2:134524400-134531000	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:134524600-134526200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:134524600-134526200	Weak transcription	Right Atrium	heart
16	chr2:134524600-134531200	Weak transcription	Brain Substantia Nigra	brain
17	chr2:134524600-134531600	Weak transcription	Fetal Stomach	stomach
18	chr2:134524600-134537200	Weak transcription	NHLF	lung
19	chr2:134524800-134525800	Weak transcription	Osteobl	bone
20	chr2:134524800-134526000	Weak transcription	Brain Angular Gyrus	brain
21	chr2:134524800-134531400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:134524800-134531600	Weak transcription	Left Ventricle	heart
23	chr2:134524800-134531800	Weak transcription	Ovary	ovary
24	chr2:134525600-134527600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr2:134525800-134526200	Enhancers	Osteobl	bone
26	chr2:134525800-134526800	Enhancers	NHEK	skin
27	chr2:134525800-134527000	Enhancers	Cortex derived primary cultured neurospheres	brain

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