Variant report

Variant	rs8048408
Chromosome Location	chr16:79688927-79688928
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	chr16:79682792..79686602-chr16:79687950..79693094,4	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10514464	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10514465	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11150183	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11150184	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11639714	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11640999	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11646606	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1364340	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1424233	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1424234	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1424236	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1424237	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4448958	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7194817	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs751043	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8058676	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8062207	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9921354	0.91[AMR][1000 genomes];0.94[EUR][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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79685600-79690400	Weak transcription	HSMMtube	muscle
2	chr16:79685600-79692600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr16:79685800-79691000	Weak transcription	HSMM	muscle
4	chr16:79685800-79691400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr16:79685800-79691800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr16:79685800-79691800	Weak transcription	NH-A	brain
7	chr16:79686000-79690600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr16:79686400-79689400	Enhancers	Fetal Thymus	thymus
9	chr16:79686600-79689000	Enhancers	Fetal Intestine Small	intestine
10	chr16:79686800-79689000	Enhancers	Esophagus	oesophagus
11	chr16:79687600-79690200	Weak transcription	Brain Germinal Matrix	brain
12	chr16:79687800-79691600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr16:79687800-79692000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr16:79687800-79692800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr16:79688000-79690200	Weak transcription	Fetal Muscle Leg	muscle
16	chr16:79688000-79690400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr16:79688000-79690600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr16:79688000-79690800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr16:79688200-79690200	Weak transcription	Fetal Stomach	stomach
20	chr16:79688200-79690400	Weak transcription	Fetal Intestine Large	intestine
21	chr16:79688200-79690600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr16:79688200-79691200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr16:79688200-79691800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr16:79688200-79691800	Weak transcription	Fetal Brain Male	brain
25	chr16:79688200-79692000	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr16:79688200-79698400	Weak transcription	Right Atrium	heart
27	chr16:79688400-79690000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr16:79688400-79690000	Weak transcription	Fetal Heart	heart
29	chr16:79688400-79690400	Weak transcription	Stomach Mucosa	stomach
30	chr16:79688400-79691600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr16:79688600-79690600	Weak transcription	Fetal Lung	lung
32	chr16:79688600-79691400	Weak transcription	HMEC	breast
33	chr16:79688800-79691800	Weak transcription	NHEK	skin

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