Variant report

Variant	rs9934453
Chromosome Location	chr16:80232682-80232683
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:80217075..80218900-chr16:80231657..80233649,2	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10514488	0.98[EUR][1000 genomes]
rs11648758	0.93[EUR][1000 genomes]
rs12149733	0.98[EUR][1000 genomes]
rs13380441	0.98[EUR][1000 genomes]
rs13380491	0.83[EUR][1000 genomes]
rs13380610	0.81[EUR][1000 genomes]
rs1382389	0.84[AMR][1000 genomes]
rs1564219	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1564220	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1564222	0.81[EUR][1000 genomes]
rs1842025	0.90[EUR][1000 genomes]
rs1904187	0.88[ASN][1000 genomes]
rs1904188	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2069012	0.96[EUR][1000 genomes]
rs2169804	0.85[AMR][1000 genomes]
rs2169806	0.83[AMR][1000 genomes]
rs2169807	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28615887	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34338989	0.97[EUR][1000 genomes]
rs4889116	0.84[AMR][1000 genomes]
rs7186149	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8043986	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8047391	0.90[AMR][1000 genomes]
rs8054317	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8061813	0.92[AMR][1000 genomes]
rs9889013	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9926004	0.84[EUR][1000 genomes]
rs9930130	0.85[AMR][1000 genomes]
rs9938515	0.82[EUR][1000 genomes]
rs9940589	0.84[AMR][1000 genomes]
rs9944373	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833298	chr16:80122337-80314603	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1055228	chr16:80207546-80378842	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1061068	chr16:80207546-80537052	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1064093	chr16:80208443-80333301	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv542985	chr16:80208443-80333301	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1059997	chr16:80209367-80247050	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1063466	chr16:80227628-80360463	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv906996	chr16:80230224-80334010	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80231400-80233000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr16:80231400-80233000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr16:80231400-80233200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr16:80231400-80233200	Flanking Active TSS	A549	lung
5	chr16:80231400-80233200	Enhancers	HSMM	muscle
6	chr16:80231400-80233200	Enhancers	HUVEC	blood vessel
7	chr16:80231400-80233200	Enhancers	NHDF-Ad	bronchial
8	chr16:80231400-80233400	Enhancers	Osteobl	bone
9	chr16:80231400-80233600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr16:80231600-80233000	Enhancers	Brain Germinal Matrix	brain
11	chr16:80231600-80233200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr16:80231600-80233200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr16:80231600-80233200	Enhancers	Fetal Lung	lung
14	chr16:80231600-80233200	Enhancers	HepG2	liver
15	chr16:80232000-80233000	Enhancers	Hela-S3	cervix
16	chr16:80232000-80233400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr16:80232000-80237000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr16:80232200-80232800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr16:80232200-80233000	Enhancers	NH-A	brain
20	chr16:80232200-80233200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr16:80232200-80233400	Enhancers	HMEC	breast
22	chr16:80232400-80233000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr16:80232400-80233000	Enhancers	Fetal Muscle Leg	muscle
24	chr16:80232400-80233200	Enhancers	Muscle Satellite Cultured Cells	--
25	chr16:80232400-80233200	Bivalent/Poised TSS	Fetal Brain Male	brain
26	chr16:80232400-80233200	Enhancers	NHLF	lung
27	chr16:80232400-80233400	Enhancers	NHEK	skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links