Variant report

Variant	rs12449089
Chromosome Location	chr16:31275969-31275970
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:31275132..31278473-chr16:31280951..31284251,6	MCF-7	breast:
2	chr16:31225561..31229093-chr16:31271713..31276905,6	MCF-7	breast:
3	chr16:31270699..31272773-chr16:31275634..31278061,2	K562	blood:
4	chr16:31275104..31276971-chr16:31278723..31280338,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169900	Chromatin interaction
ENSG00000252876	Chromatin interaction
ENSG00000169896	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10438639	0.83[ASN][1000 genomes]
rs11641624	0.83[ASN][1000 genomes]
rs11645526	0.83[ASN][1000 genomes]
rs11865830	0.83[ASN][1000 genomes]
rs1808430	0.84[ASN][1000 genomes]
rs3764327	0.83[ASN][1000 genomes]
rs3815801	0.83[ASN][1000 genomes]
rs4447446	0.85[AFR][1000 genomes]
rs4561481	0.81[ASN][1000 genomes]
rs4889640	0.81[ASN][1000 genomes]
rs60660286	0.84[ASN][1000 genomes]
rs7193943	0.83[ASN][1000 genomes]
rs7196256	0.82[ASN][1000 genomes]
rs8044075	0.81[ASN][1000 genomes]
rs8051304	0.81[ASN][1000 genomes]
rs8057320	0.83[ASN][1000 genomes]
rs8062426	0.81[ASN][1000 genomes]
rs889549	0.81[ASN][1000 genomes]
rs889551	0.81[ASN][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	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
2	nsv1066073	chr16:31219071-31278572	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31265200-31276600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:31265800-31276400	Weak transcription	A549	lung
3	chr16:31269800-31277800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr16:31271200-31276400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr16:31271400-31276000	Weak transcription	Fetal Thymus	thymus
6	chr16:31272000-31276400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr16:31272000-31276600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr16:31272000-31277000	Enhancers	Primary B cells from peripheral blood	blood
9	chr16:31272200-31276400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr16:31272200-31276600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr16:31272200-31276600	Weak transcription	Spleen	Spleen
12	chr16:31272200-31276800	Weak transcription	Placenta	Placenta
13	chr16:31272200-31277000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr16:31272200-31277600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr16:31272400-31277400	Enhancers	Primary hematopoietic stem cells	blood
16	chr16:31272600-31276200	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr16:31272600-31276600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr16:31273000-31276200	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr16:31273000-31277000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr16:31273200-31276800	Weak transcription	Pancreas	Pancrea
21	chr16:31273600-31276000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr16:31274000-31276400	Enhancers	GM12878-XiMat	blood
23	chr16:31274000-31277600	Enhancers	Primary B cells from cord blood	blood
24	chr16:31274200-31276000	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr16:31274200-31277600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
26	chr16:31274800-31276600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr16:31275000-31276400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr16:31275000-31276400	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr16:31275000-31276600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr16:31275000-31276800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr16:31275800-31277600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood

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