Variant report

Variant	esv3341343
Chromosome Location	chr16:79692468-79692840
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:79692753..79694381-chr16:79695815..79697614,2	MCF-7	breast:
2	chr16:79682792..79686602-chr16:79687950..79693094,4	MCF-7	breast:
3	chr16:79691420..79693874-chr16:79695048..79697845,4	MCF-7	breast:
4	chr16:79632623..79634849-chr16:79692598..79695483,2	MCF-7	breast:
5	chr16:79692293..79694467-chr16:79694561..79696285,3	K562	blood:

Variant related genes	Relation type
ENSG00000178573	chromatin interactions

Extended variants
information (count: 24 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35453971	chr16:79692471-79692472	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs536113393	chr16:79692481-79692482	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs368885401	chr16:79692490-79692491	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs16950934	chr16:79692492-79692493	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs140263505	chr16:79692585-79692586	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs75698991	chr16:79692598-79692599	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs540196133	chr16:79692599-79692600	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs371274602	chr16:79692620-79692621	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs181964513	chr16:79692655-79692656	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs11150186	chr16:79692668-79692669	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs544684859	chr16:79692672-79692673	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs185845390	chr16:79692681-79692682	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs371405391	chr16:79692697-79692698	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs559072912	chr16:79692709-79692710	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs530703327	chr16:79692721-79692722	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs546034350	chr16:79692722-79692723	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs564331466	chr16:79692732-79692733	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs145810188	chr16:79692745-79692746	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs546962681	chr16:79692759-79692760	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs557380856	chr16:79692761-79692762	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs568035829	chr16:79692768-79692769	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs116568960	chr16:79692771-79692772	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs550627339	chr16:79692775-79692776	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs568879928	chr16:79692835-79692836	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	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
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Adrenocortical carcinoma	18281524	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Hypoplastic left heart syndrome	22349727	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79685600-79692600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr16:79687800-79692800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr16:79688200-79698400	Weak transcription	Right Atrium	heart
4	chr16:79690200-79694200	Enhancers	Esophagus	oesophagus
5	chr16:79690400-79693200	Enhancers	Fetal Intestine Large	intestine
6	chr16:79690400-79694600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr16:79690600-79693000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr16:79690600-79693600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr16:79691000-79694000	Enhancers	HSMM	muscle
10	chr16:79691200-79692800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr16:79691200-79698200	Weak transcription	Fetal Lung	lung
12	chr16:79691400-79692600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr16:79691400-79692800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr16:79691400-79692800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr16:79691400-79692800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr16:79691600-79693000	Enhancers	HSMMtube	muscle
17	chr16:79691600-79693400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr16:79691600-79693400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr16:79691600-79695000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr16:79691800-79692600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr16:79691800-79692800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr16:79691800-79692800	Enhancers	Stomach Mucosa	stomach
23	chr16:79691800-79692800	Enhancers	NHLF	lung
24	chr16:79691800-79692800	Enhancers	Osteobl	bone
25	chr16:79691800-79693000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr16:79691800-79693000	Enhancers	NH-A	brain
27	chr16:79691800-79693200	Enhancers	Fetal Brain Male	brain
28	chr16:79692000-79692600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr16:79692000-79692800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr16:79692000-79692800	Enhancers	Placenta Amnion	Placenta Amnion
31	chr16:79692000-79692800	Bivalent Enhancer	K562	blood
32	chr16:79692000-79692800	Enhancers	NHDF-Ad	bronchial
33	chr16:79692000-79693600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr16:79692000-79693600	Enhancers	Fetal Thymus	thymus
35	chr16:79692400-79692600	Enhancers	Placenta	Placenta
36	chr16:79692400-79692800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr16:79692400-79692800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr16:79692400-79692800	Genic enhancers	Fetal Intestine Small	intestine
39	chr16:79692400-79692800	Flanking Active TSS	HMEC	breast
40	chr16:79692400-79693400	Flanking Active TSS	NHEK	skin
41	chr16:79692400-79694000	Enhancers	Brain Germinal Matrix	brain
42	chr16:79692600-79693400	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr16:79692600-79693600	Enhancers	Fetal Muscle Leg	muscle
44	chr16:79692600-79693800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr16:79692800-79693200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr16:79692800-79693400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr16:79692800-79693400	Enhancers	Fetal Intestine Small	intestine
48	chr16:79692800-79693600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr16:79692800-79693600	Enhancers	Fetal Brain Female	brain
50	chr16:79692800-79693800	Weak transcription	Osteobl	bone

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