Variant report

Variant	rs13028626
Chromosome Location	chr2:145824195-145824196
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10496972	0.86[ASN][1000 genomes]
rs10928240	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1106909	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12618061	0.86[ASN][1000 genomes]
rs12618916	0.85[EUR][1000 genomes]
rs12691705	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12990539	0.86[ASN][1000 genomes]
rs13408842	0.85[EUR][1000 genomes]
rs1830318	0.83[AFR][1000 genomes]
rs1830319	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1830321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1852684	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1852685	0.80[EUR][1000 genomes]
rs1852687	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1881409	0.83[AFR][1000 genomes]
rs1976974	0.87[EUR][1000 genomes]
rs2381686	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2381687	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28709970	0.85[EUR][1000 genomes]
rs34029033	0.81[EUR][1000 genomes]
rs4662414	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6721988	0.84[AFR][1000 genomes]
rs6725803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6747171	0.82[AFR][1000 genomes]
rs6747275	0.81[AFR][1000 genomes]
rs7561039	0.86[ASN][1000 genomes]
rs7575637	0.81[ASN][1000 genomes]
rs7592365	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs787428	0.83[EUR][1000 genomes]
rs787429	0.83[EUR][1000 genomes]
rs957293	0.84[AFR][1000 genomes]

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	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
5	nsv431768	chr2:145741527-145981491	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145819200-145826600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:145821400-145825400	Enhancers	Fetal Lung	lung
3	chr2:145821400-145827000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:145822000-145825800	Enhancers	NHDF-Ad	bronchial
5	chr2:145822200-145824200	Enhancers	Adipose Nuclei	Adipose
6	chr2:145822200-145825000	Enhancers	Brain Substantia Nigra	brain
7	chr2:145822800-145824600	Enhancers	HSMM	muscle
8	chr2:145823000-145824600	Enhancers	Fetal Muscle Leg	muscle
9	chr2:145823000-145824600	Enhancers	Fetal Stomach	stomach
10	chr2:145823000-145826200	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr2:145823200-145825000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:145823400-145824600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:145823400-145825200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:145823600-145824200	Flanking Active TSS	Osteobl	bone
15	chr2:145823600-145824400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:145823600-145824600	Enhancers	Ovary	ovary
17	chr2:145823600-145824800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:145823600-145824800	Enhancers	Muscle Satellite Cultured Cells	--
19	chr2:145823600-145825200	Enhancers	NHLF	lung
20	chr2:145823800-145824200	Active TSS	Aorta	Aorta
21	chr2:145823800-145824200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr2:145823800-145824400	Active TSS	Brain Cingulate Gyrus	brain
23	chr2:145823800-145824600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:145824000-145824200	Flanking Active TSS	Brain Hippocampus Middle	brain
25	chr2:145824000-145824400	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr2:145824000-145824400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:145824000-145824400	Active TSS	Brain Anterior Caudate	brain
28	chr2:145824000-145824400	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr2:145824000-145824600	Active TSS	Brain Angular Gyrus	brain

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