Variant report

Variant	rs4296270
Chromosome Location	chr16:79802202-79802203
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr16:79802188-79802327	K562	blood:	n/a	n/a
2	IRF1	chr16:79801598-79802481	K562	blood:	n/a	chr16:79802025-79802045 chr16:79802033-79802044 chr16:79802030-79802044 chr16:79802033-79802043 chr16:79802033-79802047 chr16:79802032-79802044 chr16:79802034-79802045 chr16:79802032-79802044 chr16:79802029-79802043
3	TBL1XR1	chr16:79802126-79802307	K562	blood:	n/a	n/a
4	EP300	chr16:79802121-79802669	K562	blood:	n/a	chr16:79802235-79802243

No.	Distal block	Cell Line	Cell type
1	chr16:79801648..79802560-chr16:80560057..80560606,2	MCF-7	breast:
2	chr16:79801259..79803185-chr16:80498981..80501432,2	MCF-7	breast:
3	chr16:79801497..79802215-chr16:80118580..80119199,3	MCF-7	breast:
4	chr16:79801228..79803127-chr16:80136004..80138998,2	K562	blood:
5	chr16:79801918..79803553-chr16:80112816..80115650,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260876	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10400993	1.00[AMR][1000 genomes]
rs12102812	1.00[AMR][1000 genomes]
rs13335246	1.00[AMR][1000 genomes]
rs28537940	1.00[AMR][1000 genomes]
rs28621047	1.00[AMR][1000 genomes]
rs28658309	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28757812	1.00[AMR][1000 genomes]
rs61321663	1.00[AMR][1000 genomes]
rs61617481	1.00[AMR][1000 genomes]
rs7190702	1.00[AMR][1000 genomes]
rs7201541	1.00[AMR][1000 genomes]
rs73571213	1.00[AMR][1000 genomes]
rs73571225	1.00[AMR][1000 genomes]
rs73571226	1.00[AMR][1000 genomes]
rs73571228	1.00[AMR][1000 genomes]
rs73571232	1.00[AMR][1000 genomes]
rs73573103	1.00[AMR][1000 genomes]
rs73573110	1.00[AMR][1000 genomes]
rs73573128	1.00[AMR][1000 genomes]
rs73573132	1.00[AMR][1000 genomes]
rs9925324	1.00[AMR][1000 genomes]
rs9925546	1.00[AMR][1000 genomes]
rs9929728	1.00[AMR][1000 genomes]
rs9931740	1.00[AMR][1000 genomes]
rs9932464	0.82[AFR][1000 genomes]
rs9937545	0.81[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][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	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
3	nsv833296	chr16:79692236-79889727	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv833297	chr16:79732501-79920419	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	esv2755409	chr16:79776699-79816299	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79792800-79804000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr16:79798400-79802800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr16:79800600-79803400	Weak transcription	Gastric	stomach
4	chr16:79801200-79804200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr16:79801400-79802400	Active TSS	Stomach Smooth Muscle	stomach
6	chr16:79801400-79803600	Enhancers	Fetal Thymus	thymus
7	chr16:79801400-79805000	Enhancers	Placenta Amnion	Placenta Amnion
8	chr16:79801600-79802400	Weak transcription	Small Intestine	intestine
9	chr16:79801600-79802800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr16:79801600-79802800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr16:79801600-79802800	Flanking Active TSS	Brain Substantia Nigra	brain
12	chr16:79801600-79803000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr16:79801600-79803000	Flanking Active TSS	Fetal Lung	lung
14	chr16:79801600-79803200	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr16:79801600-79804000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr16:79801600-79804000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr16:79801600-79804000	Enhancers	Primary hematopoietic stem cells	blood
18	chr16:79801600-79804000	Enhancers	Esophagus	oesophagus
19	chr16:79801600-79804000	Enhancers	Fetal Kidney	kidney
20	chr16:79801600-79804000	Enhancers	Placenta	Placenta
21	chr16:79801600-79804000	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr16:79801600-79804400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr16:79801800-79802400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr16:79801800-79802400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr16:79801800-79802400	Active TSS	Brain Angular Gyrus	brain
26	chr16:79801800-79802400	Active TSS	Left Ventricle	heart
27	chr16:79801800-79802400	Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr16:79801800-79802400	Active TSS	HSMMtube	muscle
29	chr16:79801800-79802600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr16:79801800-79802600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr16:79801800-79802600	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr16:79801800-79802600	Active TSS	Colonic Mucosa	Colon
33	chr16:79801800-79802600	Flanking Active TSS	NHEK	skin
34	chr16:79801800-79802800	Enhancers	H1 Cell Line	embryonic stem cell
35	chr16:79801800-79802800	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr16:79801800-79802800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr16:79801800-79802800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr16:79801800-79802800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr16:79801800-79802800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr16:79801800-79802800	Flanking Active TSS	Brain Anterior Caudate	brain
41	chr16:79801800-79802800	Flanking Active TSS	Fetal Intestine Small	intestine
42	chr16:79801800-79802800	Flanking Active TSS	HMEC	breast
43	chr16:79801800-79803200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr16:79801800-79803800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr16:79801800-79803800	Enhancers	Thymus	Thymus
46	chr16:79801800-79804000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr16:79801800-79804000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr16:79802000-79802400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr16:79802000-79802400	Active TSS	Aorta	Aorta
50	chr16:79802000-79802400	Active TSS	Liver	Liver

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