Variant report

Variant	rs4144811
Chromosome Location	chr2:145872061-145872062
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10496974	0.84[ASN][1000 genomes]
rs13000389	0.88[EUR][1000 genomes]
rs13002944	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13014698	0.84[ASN][1000 genomes]
rs13026163	0.84[ASN][1000 genomes]
rs1509563	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1509564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1830317	0.84[EUR][1000 genomes]
rs1858152	0.85[EUR][1000 genomes]
rs1997287	0.84[ASN][1000 genomes]
rs7426239	0.83[ASN][1000 genomes]
rs7583434	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7588808	0.84[EUR][1000 genomes]
rs787433	0.84[EUR][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	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
2	nsv875262	chr2:145830053-145888369	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv875263	chr2:145830053-145892427	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv875264	chr2:145830053-145911634	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv1004846	chr2:145852801-145919056	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145857600-145881200	Weak transcription	Ovary	ovary
2	chr2:145866800-145877800	Weak transcription	Aorta	Aorta
3	chr2:145868800-145872200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:145868800-145872200	Weak transcription	NH-A	brain
5	chr2:145868800-145872200	Weak transcription	NHDF-Ad	bronchial
6	chr2:145869000-145872200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:145869000-145914800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:145869400-145874600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:145869400-145876800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:145869800-145874400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:145869800-145874800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:145870000-145874600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:145870800-145872400	Enhancers	Fetal Kidney	kidney
14	chr2:145870800-145872600	Enhancers	HSMMtube	muscle
15	chr2:145870800-145872800	Enhancers	Fetal Lung	lung
16	chr2:145871000-145874600	Weak transcription	Adipose Nuclei	Adipose
17	chr2:145871600-145873000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:145872000-145872200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:145872000-145872400	Enhancers	Osteobl	bone
20	chr2:145872000-145873000	Enhancers	HSMM	muscle
21	chr2:145872000-145874600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:145872000-145880800	Weak transcription	Fetal Stomach	stomach

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