Variant report

Variant	rs1512730
Chromosome Location	chr12:85818783-85818784
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1355644	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1567713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17012815	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17012840	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17012883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17012900	0.98[AFR][1000 genomes]
rs7304442	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7307163	1.00[AMR][1000 genomes]
rs7313914	1.00[AMR][1000 genomes]
rs9669744	1.00[AMR][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	esv1792335	chr12:85321249-86003609	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv817242	chr12:85622245-86069213	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1054573	chr12:85658602-86235433	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1035600	chr12:85661373-86235433	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:85801000-85819800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:85812800-85819600	Weak transcription	Fetal Lung	lung
3	chr12:85818200-85818800	Enhancers	Primary B cells from peripheral blood	blood
4	chr12:85818200-85818800	Active TSS	A549	lung
5	chr12:85818200-85819000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:85818200-85819000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:85818400-85818800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:85818400-85818800	Active TSS	Primary B cells from cord blood	blood
9	chr12:85818400-85818800	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr12:85818400-85818800	Flanking Active TSS	GM12878-XiMat	blood
11	chr12:85818400-85818800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr12:85818400-85819000	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr12:85818600-85818800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
14	chr12:85818600-85818800	Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr12:85818600-85818800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:85818600-85818800	Flanking Active TSS	Duodenum Mucosa	Duodenum

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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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