Variant report

Variant	rs8059614
Chromosome Location	chr16:79641363-79641364
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:79640662..79643059-chr16:80057931..80060430,2	MCF-7	breast:
2	chr16:79640047..79642823-chr16:79655251..79657504,2	MCF-7	breast:
3	chr16:79635014..79637363-chr16:79638554..79641857,3	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1045394	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28465222	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34511487	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8055339	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs889473	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9941016	1.00[CEU][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv457554	chr16:79608408-79645989	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv573289	chr16:79608408-79645989	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8059614	GAN	cis	cerebellum	SCAN

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79635600-79652400	Weak transcription	Spleen	Spleen
2	chr16:79636200-79653800	Weak transcription	Right Atrium	heart
3	chr16:79636600-79641400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr16:79636600-79642600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr16:79636800-79641400	Weak transcription	HSMMtube	muscle
6	chr16:79636800-79646400	Weak transcription	NHLF	lung
7	chr16:79637000-79641400	Weak transcription	Brain Hippocampus Middle	brain
8	chr16:79637000-79641400	Weak transcription	Psoas Muscle	Psoas
9	chr16:79637200-79641400	Weak transcription	Fetal Stomach	stomach
10	chr16:79637200-79641600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr16:79638400-79641400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr16:79638600-79641600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr16:79638800-79643800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr16:79639400-79643600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr16:79639400-79645200	Enhancers	HMEC	breast
16	chr16:79639600-79642200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr16:79639600-79642200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr16:79639600-79642200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr16:79639600-79644000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr16:79640000-79642000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr16:79640000-79642200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr16:79640000-79642200	Enhancers	NHDF-Ad	bronchial
23	chr16:79640200-79642200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr16:79640400-79641400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr16:79640400-79641400	Weak transcription	Fetal Lung	lung
26	chr16:79640400-79641400	Weak transcription	NH-A	brain
27	chr16:79640400-79641400	Weak transcription	Osteobl	bone
28	chr16:79640400-79641600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr16:79640400-79641600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr16:79640400-79641800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr16:79640400-79642000	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr16:79640400-79642200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr16:79640400-79642200	Enhancers	NHEK	skin
34	chr16:79640400-79643000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr16:79640400-79643600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr16:79640400-79643600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr16:79640600-79641600	Weak transcription	Fetal Thymus	thymus
38	chr16:79640600-79643000	Weak transcription	Primary hematopoietic stem cells	blood
39	chr16:79640800-79641600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr16:79640800-79650800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr16:79641000-79642000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr16:79641000-79642200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr16:79641000-79642200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr16:79641200-79641400	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr16:79641200-79641600	Enhancers	Stomach Smooth Muscle	stomach
46	chr16:79641200-79642000	Enhancers	Colon Smooth Muscle	Colon
47	chr16:79641200-79642000	Enhancers	HSMM	muscle
48	chr16:79641200-79642200	Enhancers	Adipose Nuclei	Adipose
49	chr16:79641200-79642200	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr16:79641200-79642800	Enhancers	Fetal Muscle Leg	muscle

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