Variant report

Variant	rs16944214
Chromosome Location	chr16:79688096-79688097
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:79682792..79686602-chr16:79687950..79693094,4	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12598819	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12599420	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16950907	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16950919	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16950934	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16951124	1.00[AMR][1000 genomes]
rs3887426	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73575101	1.00[AMR][1000 genomes]
rs751042	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs878864	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv573285	chr16:79158182-80127326	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv833295	chr16:79568878-79726768	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv906992	chr16:79649394-79769790	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv530714	chr16:79661581-79925435	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	esv3422393	chr16:79685851-79690149	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79684800-79688200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr16:79685000-79688200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr16:79685600-79690400	Weak transcription	HSMMtube	muscle
4	chr16:79685600-79692600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr16:79685800-79691000	Weak transcription	HSMM	muscle
6	chr16:79685800-79691400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr16:79685800-79691800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr16:79685800-79691800	Weak transcription	NH-A	brain
9	chr16:79686000-79690600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr16:79686400-79688200	Enhancers	Primary hematopoietic stem cells	blood
11	chr16:79686400-79688200	Enhancers	Fetal Stomach	stomach
12	chr16:79686400-79688200	Enhancers	Right Atrium	heart
13	chr16:79686400-79689400	Enhancers	Fetal Thymus	thymus
14	chr16:79686600-79688400	Enhancers	Fetal Heart	heart
15	chr16:79686600-79688800	Enhancers	NHEK	skin
16	chr16:79686600-79689000	Enhancers	Fetal Intestine Small	intestine
17	chr16:79686800-79688200	Enhancers	Fetal Intestine Large	intestine
18	chr16:79686800-79688400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr16:79686800-79689000	Enhancers	Esophagus	oesophagus
20	chr16:79687000-79688400	Enhancers	Duodenum Mucosa	Duodenum
21	chr16:79687000-79688600	Enhancers	HMEC	breast
22	chr16:79687200-79688200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr16:79687200-79688200	Enhancers	Placenta Amnion	Placenta Amnion
24	chr16:79687200-79688400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr16:79687200-79688400	Enhancers	Stomach Mucosa	stomach
26	chr16:79687600-79688200	Flanking Active TSS	Fetal Brain Male	brain
27	chr16:79687600-79690200	Weak transcription	Brain Germinal Matrix	brain
28	chr16:79687800-79688200	Enhancers	Fetal Kidney	kidney
29	chr16:79687800-79688200	Flanking Active TSS	Fetal Lung	lung
30	chr16:79687800-79688200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
31	chr16:79687800-79688400	Enhancers	Gastric	stomach
32	chr16:79687800-79691600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr16:79687800-79692000	Weak transcription	Fetal Muscle Trunk	muscle
34	chr16:79687800-79692800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr16:79688000-79688200	Flanking Active TSS	Pancreas	Pancrea
36	chr16:79688000-79690200	Weak transcription	Fetal Muscle Leg	muscle
37	chr16:79688000-79690400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr16:79688000-79690600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr16:79688000-79690800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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