Variant report

Variant	rs28693857
Chromosome Location	chr16:72881064-72881065
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:72535746..72536637-chr16:72880692..72881312,4	MCF-7	breast:
2	chr16:72880635..72884317-chr16:73081459..73084929,5	MCF-7	breast:
3	chr16:72867608..72872657-chr16:72880738..72885405,9	MCF-7	breast:
4	chr16:72870578..72871517-chr16:72880943..72881568,3	MCF-7	breast:
5	chr16:72877476..72879794-chr16:72879861..72883211,4	MCF-7	breast:
6	chr16:72866296..72867040-chr16:72880751..72881406,3	MCF-7	breast:
7	chr16:72878526..72882353-chr16:72945931..72948591,3	MCF-7	breast:
8	chr16:72880917..72882507-chr16:72970141..72972611,2	MCF-7	breast:
9	chr16:72879898..72883074-chr16:73230145..73232683,3	MCF-7	breast:
10	chr16:72875132..72886767-chr16:73085117..73094489,23	MCF-7	breast:
11	chr16:72874196..72876790-chr16:72878784..72881907,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000140836	Chromatin interaction
ENSG00000271009	Chromatin interaction
ENSG00000272250	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11861408	1.00[EUR][1000 genomes]
rs11861672	1.00[EUR][1000 genomes]
rs11863759	1.00[EUR][1000 genomes]
rs11865496	1.00[EUR][1000 genomes]
rs11866292	1.00[EUR][1000 genomes]
rs13329845	1.00[EUR][1000 genomes]
rs13331987	1.00[EUR][1000 genomes]
rs16971145	1.00[EUR][1000 genomes]
rs16971240	1.00[EUR][1000 genomes]
rs16971367	1.00[EUR][1000 genomes]
rs16971373	1.00[EUR][1000 genomes]
rs16971382	1.00[EUR][1000 genomes]
rs28464989	1.00[EUR][1000 genomes]
rs28530505	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28828717	1.00[EUR][1000 genomes]
rs28847294	1.00[EUR][1000 genomes]
rs4255793	1.00[EUR][1000 genomes]
rs56804755	1.00[EUR][1000 genomes]
rs56991537	1.00[EUR][1000 genomes]
rs60176428	1.00[EUR][1000 genomes]
rs61235372	1.00[EUR][1000 genomes]
rs61655021	1.00[EUR][1000 genomes]
rs6499589	1.00[EUR][1000 genomes]
rs7184224	1.00[EUR][1000 genomes]
rs7185566	1.00[EUR][1000 genomes]
rs7187768	1.00[EUR][1000 genomes]
rs7193704	1.00[EUR][1000 genomes]
rs7195234	1.00[EUR][1000 genomes]
rs7197918	1.00[EUR][1000 genomes]
rs7199507	1.00[EUR][1000 genomes]
rs7199594	1.00[EUR][1000 genomes]
rs7202598	1.00[EUR][1000 genomes]
rs73583188	1.00[EUR][1000 genomes]
rs73583198	1.00[EUR][1000 genomes]
rs73584928	1.00[EUR][1000 genomes]
rs73584931	1.00[EUR][1000 genomes]
rs73584955	1.00[EUR][1000 genomes]
rs73590703	1.00[EUR][1000 genomes]
rs73590712	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73590718	1.00[EUR][1000 genomes]
rs73590724	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73590791	1.00[EUR][1000 genomes]
rs8043976	1.00[EUR][1000 genomes]
rs8051123	1.00[EUR][1000 genomes]
rs8051371	1.00[EUR][1000 genomes]
rs8061838	1.00[EUR][1000 genomes]
rs9926706	1.00[EUR][1000 genomes]
rs9929006	1.00[EUR][1000 genomes]
rs9933331	1.00[EUR][1000 genomes]
rs9933418	1.00[EUR][1000 genomes]
rs9935518	1.00[EUR][1000 genomes]
rs9938038	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063049	chr16:72577004-72887111	Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv542952	chr16:72577004-72887111	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72862600-72882600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr16:72867600-72892400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr16:72868600-72881400	Weak transcription	Hela-S3	cervix
4	chr16:72871000-72881800	Weak transcription	Liver	Liver
5	chr16:72872200-72883600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr16:72872400-72881200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr16:72872600-72881400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr16:72872800-72881400	Weak transcription	NH-A	brain
9	chr16:72873200-72891800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr16:72873400-72881800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr16:72873600-72881400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr16:72875000-72882200	Weak transcription	Stomach Mucosa	stomach
13	chr16:72875000-72882400	Weak transcription	Gastric	stomach
14	chr16:72875200-72881800	Weak transcription	Ovary	ovary
15	chr16:72875400-72882600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr16:72875600-72883000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr16:72875800-72881200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr16:72875800-72881200	Weak transcription	Adipose Nuclei	Adipose
19	chr16:72875800-72881800	Weak transcription	Fetal Kidney	kidney
20	chr16:72876000-72881200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr16:72876000-72881200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr16:72876400-72881200	Weak transcription	Osteobl	bone
23	chr16:72876800-72882400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr16:72877400-72883600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr16:72877600-72881600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr16:72877800-72882600	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr16:72877800-72885400	Enhancers	Fetal Muscle Leg	muscle
28	chr16:72878000-72882000	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr16:72878000-72883000	Enhancers	Fetal Heart	heart
30	chr16:72878000-72885800	Enhancers	Fetal Muscle Trunk	muscle
31	chr16:72878200-72882400	Enhancers	Left Ventricle	heart
32	chr16:72878200-72882400	Enhancers	Right Ventricle	heart
33	chr16:72878400-72881200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr16:72878400-72881200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr16:72878400-72881800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr16:72878600-72881600	Weak transcription	Fetal Lung	lung
37	chr16:72878800-72883400	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr16:72879000-72881600	Weak transcription	Brain Germinal Matrix	brain
39	chr16:72879000-72881800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr16:72879000-72882400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr16:72879200-72881200	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr16:72879200-72881400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr16:72879200-72881400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr16:72879400-72881200	Weak transcription	NHLF	lung
45	chr16:72879400-72882200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr16:72879400-72883000	Weak transcription	Fetal Intestine Large	intestine
47	chr16:72879600-72881200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr16:72879600-72881200	Enhancers	A549	lung
49	chr16:72879600-72881600	Weak transcription	Lung	lung
50	chr16:72879600-72882400	Weak transcription	Primary monocytes fromperipheralblood	blood

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