Variant report

Variant	rs751042
Chromosome Location	chr16:79686373-79686374
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:79682792..79686602-chr16:79687950..79693094,4	MCF-7	breast:
2	chr16:79685953..79688052-chr16:79693172..79695514,2	MCF-7	breast:
3	chr16:79672405..79675476-chr16:79684615..79687240,3	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];1.00[ASN][1000 genomes]
rs12599420	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16944214	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16950907	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16950919	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16950934	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16951124	1.00[AMR][1000 genomes]
rs3887426	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73575101	1.00[AMR][1000 genomes]
rs878864	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[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	chr16:79674400-79686400	Weak transcription	Fetal Thymus	thymus
2	chr16:79676400-79687800	Weak transcription	Fetal Kidney	kidney
3	chr16:79682200-79687400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr16:79684800-79686600	Enhancers	HMEC	breast
5	chr16:79684800-79688200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr16:79685000-79688000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr16:79685000-79688200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr16:79685400-79686400	Weak transcription	Right Atrium	heart
9	chr16:79685400-79686600	Enhancers	Colon Smooth Muscle	Colon
10	chr16:79685400-79686600	Weak transcription	Fetal Intestine Small	intestine
11	chr16:79685400-79688000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr16:79685400-79688000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr16:79685600-79686800	Weak transcription	Esophagus	oesophagus
14	chr16:79685600-79687200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr16:79685600-79687200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr16:79685600-79687200	Weak transcription	Lung	lung
17	chr16:79685600-79687400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr16:79685600-79687400	Weak transcription	NHDF-Ad	bronchial
19	chr16:79685600-79687600	Weak transcription	Ovary	ovary
20	chr16:79685600-79690400	Weak transcription	HSMMtube	muscle
21	chr16:79685600-79692600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr16:79685800-79686800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr16:79685800-79687200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr16:79685800-79687200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr16:79685800-79687200	Weak transcription	Adipose Nuclei	Adipose
26	chr16:79685800-79687200	Weak transcription	Brain Hippocampus Middle	brain
27	chr16:79685800-79687200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr16:79685800-79687200	Weak transcription	Stomach Mucosa	stomach
29	chr16:79685800-79691000	Weak transcription	HSMM	muscle
30	chr16:79685800-79691400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr16:79685800-79691800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr16:79685800-79691800	Weak transcription	NH-A	brain
33	chr16:79686000-79686400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr16:79686000-79686400	Weak transcription	Fetal Stomach	stomach
35	chr16:79686000-79690600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr16:79686200-79686600	Weak transcription	NHEK	skin
37	chr16:79686200-79687800	Enhancers	Fetal Lung	lung
38	chr16:79686200-79688000	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr16:79686200-79688000	Enhancers	Fetal Muscle Leg	muscle

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