Variant report

Variant	esv3351124
Chromosome Location	chr16:47886851-47890349
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr16:47887660-47887810	GM12865	blood:	n/a	n/a
2	CTCF	chr16:47888446-47888470	GM19239	blood:	n/a	n/a
3	CTCF	chr16:47888472-47888566	GM19239	blood:	n/a	n/a
4	CTCF	chr16:47888272-47888426	GM19239	blood:	n/a	n/a
5	MYC	chr16:47888121-47888152	MCF-7	breast:	n/a	n/a
6	MYC	chr16:47888759-47888835	GM12878	blood:	n/a	n/a
7	MYC	chr16:47888496-47888611	MCF-7	breast:	n/a	n/a
8	MYC	chr16:47888230-47888233	MCF-7	breast:	n/a	n/a
9	MYC	chr16:47888922-47889019	MCF-7	breast:	n/a	n/a
10	MYC	chr16:47888107-47888643	MCF-7	breast:	n/a	n/a
11	MYC	chr16:47888173-47888181	MCF-7	breast:	n/a	n/a
12	MYC	chr16:47888465-47888656	H1-hESC	embryonic stem cell:	n/a	n/a
13	NR2C2	chr16:47888242-47889109	GM12878	blood:	n/a	n/a
14	POLR2A	chr16:47888514-47888711	Gliobla	brain:	n/a	n/a
15	POLR2A	chr16:47888013-47888726	MCF-7	breast:	n/a	n/a
16	POLR2A	chr16:47888494-47888499	Gliobla	brain:	n/a	n/a
17	POLR2A	chr16:47888049-47888104	HepG2	liver:	n/a	n/a
18	POLR2A	chr16:47888204-47888281	HepG2	liver:	n/a	n/a
19	POLR2A	chr16:47888301-47888321	HepG2	liver:	n/a	n/a
20	POLR2A	chr16:47888082-47888790	MCF-7	breast:	n/a	n/a
21	STAT3	chr16:47890059-47890098	MCF10A-Er-Src	breast:	n/a	n/a
22	SUZ12	chr16:47888025-47889074	H1-hESC	embryonic stem cell:	n/a	n/a
23	USF2	chr16:47888729-47888823	H1-hESC	embryonic stem cell:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000261231	TF binding region

Extended variants
information (count: 135 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535786013	chr16:47886851-47886852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549089987	chr16:47886860-47886861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538878421	chr16:47886861-47886862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563400956	chr16:47886865-47886866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs117817165	chr16:47886909-47886910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534728425	chr16:47886914-47886915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148743135	chr16:47886998-47886999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571416476	chr16:47887045-47887046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547695093	chr16:47887049-47887050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557179034	chr16:47887065-47887066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183867895	chr16:47887182-47887183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142295216	chr16:47887183-47887184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555042948	chr16:47887189-47887190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372507038	chr16:47887325-47887326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555726260	chr16:47887437-47887438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs367865476	chr16:47887439-47887440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374543689	chr16:47887460-47887461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564131740	chr16:47887497-47887498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368791871	chr16:47887511-47887512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371841065	chr16:47887519-47887520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561298005	chr16:47887524-47887525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150814187	chr16:47887554-47887555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139624588	chr16:47887574-47887575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549229455	chr16:47887575-47887576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565848890	chr16:47887576-47887577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187648146	chr16:47887590-47887591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144489883	chr16:47887598-47887599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537188375	chr16:47887713-47887714	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs557117616	chr16:47887819-47887820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567549111	chr16:47887828-47887829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190479923	chr16:47887854-47887855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs183057174	chr16:47887867-47887868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555003017	chr16:47887882-47887883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540978135	chr16:47887914-47887915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs187071359	chr16:47887915-47887916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577794294	chr16:47887924-47887925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs191842590	chr16:47887943-47887944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563392622	chr16:47887959-47887960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529049399	chr16:47887966-47887967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144190825	chr16:47888010-47888011	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs371073219	chr16:47888011-47888012	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs79047904	chr16:47888066-47888067	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs190878092	chr16:47888076-47888077	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs537431561	chr16:47888079-47888080	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs375398252	chr16:47888080-47888081	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs112816617	chr16:47888087-47888088	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs528422788	chr16:47888093-47888094	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs73536729	chr16:47888097-47888098	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs374789516	chr16:47888106-47888107	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs374385419	chr16:47888112-47888113	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

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

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47882800-47889200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr16:47883000-47890600	Weak transcription	Fetal Brain Female	brain
3	chr16:47883200-47889800	Weak transcription	Gastric	stomach
4	chr16:47883400-47899600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr16:47883800-47893000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr16:47885400-47891000	Weak transcription	Fetal Brain Male	brain
7	chr16:47885600-47887600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr16:47885600-47892400	Weak transcription	Brain Anterior Caudate	brain
9	chr16:47886000-47888000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr16:47886000-47888600	Weak transcription	Brain Germinal Matrix	brain
11	chr16:47886600-47887400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr16:47886600-47888200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr16:47887200-47888400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr16:47887600-47888000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr16:47888000-47888400	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr16:47888000-47888600	Active TSS	Fetal Kidney	kidney
17	chr16:47888000-47889000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr16:47888000-47889000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr16:47888200-47888800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr16:47888400-47888800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr16:47888400-47890200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr16:47888600-47888800	Enhancers	Brain Germinal Matrix	brain
23	chr16:47888600-47888800	Enhancers	Pancreas	Pancrea
24	chr16:47888600-47889000	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
25	chr16:47888800-47889000	Enhancers	Right Ventricle	heart
26	chr16:47888800-47889400	Weak transcription	Brain Germinal Matrix	brain
27	chr16:47889000-47889200	Bivalent/Poised TSS	Fetal Kidney	kidney
28	chr16:47889000-47889400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr16:47889000-47889400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr16:47889200-47889400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr16:47889400-47889800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr16:47889400-47890000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr16:47889400-47893400	Enhancers	Brain Germinal Matrix	brain
34	chr16:47889800-47890400	Enhancers	Gastric	stomach
35	chr16:47890200-47891400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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