Variant report

Variant	rs12598819
Chromosome Location	chr16:79685708-79685709
allele	A/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:
2	chr16:79672405..79675476-chr16:79684615..79687240,3	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
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]
rs751042	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs878864	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:45 , 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	chr16:79684800-79686000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr16:79684800-79686600	Enhancers	HMEC	breast
6	chr16:79684800-79688200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr16:79685000-79685800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr16:79685000-79685800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr16:79685000-79685800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr16:79685000-79685800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr16:79685000-79685800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr16:79685000-79685800	Enhancers	Adipose Nuclei	Adipose
13	chr16:79685000-79685800	Enhancers	Brain Cingulate Gyrus	brain
14	chr16:79685000-79685800	Enhancers	Brain Hippocampus Middle	brain
15	chr16:79685000-79685800	Enhancers	Brain Substantia Nigra	brain
16	chr16:79685000-79685800	Enhancers	Fetal Lung	lung
17	chr16:79685000-79685800	Enhancers	NH-A	brain
18	chr16:79685000-79685800	Enhancers	Osteobl	bone
19	chr16:79685000-79686000	Enhancers	Fetal Stomach	stomach
20	chr16:79685000-79686200	Enhancers	NHEK	skin
21	chr16:79685000-79688000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr16:79685000-79688200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr16:79685200-79685800	Enhancers	Fetal Muscle Trunk	muscle
24	chr16:79685200-79685800	Enhancers	Fetal Muscle Leg	muscle
25	chr16:79685200-79685800	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr16:79685200-79685800	Enhancers	Stomach Mucosa	stomach
27	chr16:79685200-79685800	Enhancers	HSMM	muscle
28	chr16:79685200-79686000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr16:79685200-79686000	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr16:79685400-79685800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr16:79685400-79686400	Weak transcription	Right Atrium	heart
32	chr16:79685400-79686600	Enhancers	Colon Smooth Muscle	Colon
33	chr16:79685400-79686600	Weak transcription	Fetal Intestine Small	intestine
34	chr16:79685400-79688000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr16:79685400-79688000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr16:79685600-79686200	Weak transcription	Brain Anterior Caudate	brain
37	chr16:79685600-79686800	Weak transcription	Esophagus	oesophagus
38	chr16:79685600-79687200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr16:79685600-79687200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr16:79685600-79687200	Weak transcription	Lung	lung
41	chr16:79685600-79687400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr16:79685600-79687400	Weak transcription	NHDF-Ad	bronchial
43	chr16:79685600-79687600	Weak transcription	Ovary	ovary
44	chr16:79685600-79690400	Weak transcription	HSMMtube	muscle
45	chr16:79685600-79692600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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