Variant report

Variant	rs73007432
Chromosome Location	chr2:145694314-145694315
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10928234	1.00[EUR][1000 genomes]
rs56260527	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59001323	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60211308	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60943334	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61488890	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73005549	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73007426	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73007433	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7557112	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7573849	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7600529	1.00[EUR][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	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv932113	chr2:145515124-145844491	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv834398	chr2:145659419-145830156	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145668800-145695600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:145692800-145695400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:145692800-145695600	Enhancers	Muscle Satellite Cultured Cells	--
4	chr2:145692800-145696000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:145692800-145696000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:145692800-145696600	Enhancers	Fetal Kidney	kidney
7	chr2:145693400-145695200	Weak transcription	Right Atrium	heart
8	chr2:145693600-145694800	Weak transcription	Brain Hippocampus Middle	brain
9	chr2:145693600-145695200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:145693600-145695200	Enhancers	NHDF-Ad	bronchial
11	chr2:145693600-145695600	Enhancers	Osteobl	bone
12	chr2:145693600-145695800	Enhancers	Ovary	ovary
13	chr2:145693800-145696000	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr2:145694000-145695800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:145694000-145695800	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr2:145694200-145695600	Enhancers	Adipose Nuclei	Adipose
17	chr2:145694200-145695800	Enhancers	Fetal Lung	lung
18	chr2:145694200-145696200	Enhancers	Aorta	Aorta
19	chr2:145694200-145696800	Enhancers	Colon Smooth Muscle	Colon

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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