Variant report

Variant	rs59027081
Chromosome Location	chr12:105304881-105304882
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17036430	1.00[AMR][1000 genomes]
rs56172532	1.00[AMR][1000 genomes]
rs56302664	1.00[AMR][1000 genomes]
rs56745471	1.00[AMR][1000 genomes]
rs56747454	1.00[AMR][1000 genomes]
rs56784841	1.00[AMR][1000 genomes]
rs57845641	1.00[AMR][1000 genomes]
rs58535833	0.95[AFR][1000 genomes]
rs59568349	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59751889	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61274096	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7300539	1.00[AMR][1000 genomes]
rs7305882	1.00[AMR][1000 genomes]
rs7980760	1.00[AMR][1000 genomes]
rs9669688	1.00[AMR][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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 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	chr12:105278600-105313800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr12:105284600-105309000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:105290800-105331600	Weak transcription	Gastric	stomach
4	chr12:105293400-105310000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr12:105293600-105321600	Weak transcription	A549	lung
6	chr12:105297400-105306600	Weak transcription	Ovary	ovary
7	chr12:105297400-105323600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr12:105297600-105323400	Weak transcription	Aorta	Aorta
9	chr12:105297800-105313000	Weak transcription	Fetal Stomach	stomach
10	chr12:105298200-105314600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr12:105300400-105323200	Weak transcription	Pancreas	Pancrea
12	chr12:105303400-105305800	Weak transcription	Liver	Liver
13	chr12:105303600-105305200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:105304200-105305000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:105304400-105324600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:105304600-105315000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:105304800-105310200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:105304800-105313800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:105304800-105314800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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