Variant report

Variant	esv33450
Chromosome Location	chr16:48572307-48575919
allele	n/a
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:48574948..48577127-chr16:48642959..48645703,3	MCF-7	breast:
2	chr16:48572005..48574156-chr16:48576994..48578777,2	K562	blood:
3	chr16:48575861..48576577-chr16:48656947..48657667,2	MCF-7	breast:
4	chr16:48568622..48571251-chr16:48573389..48575034,2	K562	blood:
5	chr16:48572635..48573281-chr16:48656885..48657503,2	MCF-7	breast:
6	chr16:48570296..48572124-chr16:48572247..48574636,2	MCF-7	breast:
7	chr16:48559845..48562587-chr16:48571698..48574105,2	K562	blood:

No data

(count:2 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	N4BP1	hsa-miR-28-5p	chr16:48572739-48572733
2	N4BP1	hsa-miR-320b	chr16:48575856-48575850

Variant related genes	Relation type
ENSG00000260086	chromatin interactions
ENSG00000102921	chromatin interactions

Extended variants
information (count: 127 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191510426	chr16:48572310-48572311	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs182086115	chr16:48572346-48572347	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs116271247	chr16:48572352-48572353	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs555055983	chr16:48572392-48572393	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs565713853	chr16:48572400-48572401	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs534590315	chr16:48572404-48572405	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573535496	chr16:48572405-48572406	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146284608	chr16:48572428-48572429	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369200296	chr16:48572454-48572455	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369510403	chr16:48572471-48572472	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112338655	chr16:48572577-48572578	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544541106	chr16:48572580-48572581	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139392025	chr16:48572692-48572693	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs144110527	chr16:48572693-48572694	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs559468063	chr16:48572716-48572717	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs186171697	chr16:48572719-48572720	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs545342070	chr16:48572728-48572729	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs565258063	chr16:48572729-48572730	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs530963763	chr16:48572732-48572733	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs550771564	chr16:48572775-48572776	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs1224	chr16:48572817-48572818	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs528975293	chr16:48572836-48572837	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs549088339	chr16:48572942-48572943	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs190101666	chr16:48572943-48572944	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs71382727	chr16:48572980-48572981	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs79435406	chr16:48573008-48573009	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs368575178	chr16:48573034-48573035	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs558037656	chr16:48573041-48573042	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs571575032	chr16:48573042-48573043	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs61399205	chr16:48573077-48573078	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs142229427	chr16:48573084-48573085	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs557192046	chr16:48573090-48573091	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs182699466	chr16:48573104-48573105	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs576846549	chr16:48573105-48573106	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs542740884	chr16:48573172-48573173	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs531197889	chr16:48573196-48573197	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs573124864	chr16:48573244-48573245	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs145014288	chr16:48573266-48573267	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs565195052	chr16:48573289-48573290	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541053328	chr16:48573312-48573313	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs79102905	chr16:48573426-48573427	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs9941275	chr16:48573428-48573429	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs530351420	chr16:48573503-48573504	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs148656106	chr16:48573516-48573517	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565771881	chr16:48573536-48573537	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528035147	chr16:48573548-48573549	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs78515149	chr16:48573581-48573582	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs79918830	chr16:48573582-48573583	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571313743	chr16:48573621-48573622	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537323964	chr16:48573622-48573623	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164920	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Renal cell carcinoma	18765545	CNVD
Sudden cardiac death	19188705	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Colorectal cancer	19359472	CNVD
Olfactory neuroblastoma	18408657	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Disease	22140031	CNVD
Non-syndromic sensorineural hearing loss	22140031	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:335 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48561000-48574400	Weak transcription	Fetal Intestine Large	intestine
2	chr16:48561000-48575200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr16:48565600-48573000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr16:48566400-48583000	Weak transcription	Fetal Brain Male	brain
5	chr16:48567600-48572600	Enhancers	Fetal Muscle Trunk	muscle
6	chr16:48567800-48572400	Enhancers	Fetal Muscle Leg	muscle
7	chr16:48568400-48572600	Enhancers	Lung	lung
8	chr16:48568600-48572600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr16:48568600-48572800	Enhancers	Esophagus	oesophagus
10	chr16:48568600-48573000	Enhancers	Left Ventricle	heart
11	chr16:48569000-48572600	Enhancers	Brain Anterior Caudate	brain
12	chr16:48569000-48572600	Enhancers	Right Ventricle	heart
13	chr16:48569000-48573200	Enhancers	Brain Cingulate Gyrus	brain
14	chr16:48569200-48572400	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr16:48569200-48572600	Genic enhancers	Fetal Stomach	stomach
16	chr16:48569200-48572600	Enhancers	Ovary	ovary
17	chr16:48569200-48572600	Enhancers	HMEC	breast
18	chr16:48569200-48573000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr16:48569200-48574000	Enhancers	Brain Substantia Nigra	brain
20	chr16:48569400-48572600	Enhancers	Right Atrium	heart
21	chr16:48569400-48573000	Enhancers	Colonic Mucosa	Colon
22	chr16:48569400-48573000	Enhancers	Fetal Thymus	thymus
23	chr16:48569400-48573600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr16:48569400-48578000	Strong transcription	Fetal Brain Female	brain
25	chr16:48569600-48572400	Enhancers	Rectal Smooth Muscle	rectum
26	chr16:48569600-48572600	Enhancers	Colon Smooth Muscle	Colon
27	chr16:48569600-48572600	Enhancers	Fetal Lung	lung
28	chr16:48569600-48572600	Enhancers	Psoas Muscle	Psoas
29	chr16:48569600-48573600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr16:48569600-48573600	Enhancers	Fetal Heart	heart
31	chr16:48569800-48572400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr16:48569800-48573200	Enhancers	Liver	Liver
33	chr16:48569800-48573200	Enhancers	Stomach Mucosa	stomach
34	chr16:48569800-48580600	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr16:48570000-48575200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr16:48570200-48572600	Enhancers	HSMMtube	muscle
37	chr16:48570400-48575000	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr16:48570400-48575000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr16:48570400-48576600	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr16:48570400-48578800	Strong transcription	Brain Germinal Matrix	brain
41	chr16:48570600-48572600	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr16:48570600-48572800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr16:48570600-48574800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr16:48570800-48572400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr16:48570800-48572800	Weak transcription	HepG2	liver
46	chr16:48570800-48573200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr16:48570800-48573400	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr16:48571000-48572400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr16:48571000-48572400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr16:48571000-48572400	Enhancers	HSMM	muscle

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