Variant report

Variant	rs12427679
Chromosome Location	chr13:48464409-48464410
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1886445	1.00[AFR][1000 genomes]
rs4941614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4942709	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7992167	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7994291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7994373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3510679	chr13:48236624-48498185	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv3510680	chr13:48236624-48498185	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv933980	chr13:48431000-48557419	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48451000-48480200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr13:48453800-48471600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr13:48457200-48478000	Weak transcription	Adipose Nuclei	Adipose
4	chr13:48460800-48464600	Weak transcription	HSMMtube	muscle
5	chr13:48461000-48472200	Weak transcription	Spleen	Spleen
6	chr13:48461000-48472400	Weak transcription	Lung	lung
7	chr13:48461000-48478200	Weak transcription	Left Ventricle	heart
8	chr13:48463600-48474600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr13:48463800-48464600	Enhancers	Dnd41	blood
10	chr13:48463800-48465200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr13:48464000-48465000	Enhancers	Primary T cells from cord blood	blood
12	chr13:48464000-48465200	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr13:48464200-48464600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr13:48464200-48464800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr13:48464200-48465000	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr13:48464200-48465000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr13:48464400-48464800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr13:48464400-48464800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr13:48464400-48464800	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr13:48464400-48464800	Flanking Active TSS	NHEK	skin
21	chr13:48464400-48465000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr13:48464400-48465200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr13:48464400-48465200	Enhancers	HMEC	breast

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