Variant report

Variant	esv3422393
Chromosome Location	chr16:79685851-79690149
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:79672405..79675476-chr16:79684615..79687240,3	MCF-7	breast:
2	chr16:79682792..79686602-chr16:79687950..79693094,4	MCF-7	breast:
3	chr16:79682792..79686602-chr16:79687950..79693094,4	MCF-7	breast:
4	chr16:79685953..79688052-chr16:79693172..79695514,2	MCF-7	breast:

Extended variants
information (count: 235 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:235 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71140895	chr16:79685855-79685856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549836413	chr16:79685922-79685923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560309159	chr16:79685931-79685932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369856066	chr16:79685962-79685963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547698785	chr16:79685970-79685971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141160338	chr16:79686003-79686004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150287315	chr16:79686007-79686008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548558736	chr16:79686061-79686062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570063795	chr16:79686082-79686083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs370204915	chr16:79686103-79686104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575636081	chr16:79686126-79686127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537091222	chr16:79686152-79686153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74039627	chr16:79686234-79686235	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs577288512	chr16:79686301-79686302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs199660158	chr16:79686354-79686355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538792222	chr16:79686365-79686366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs751042	chr16:79686373-79686374	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs562926697	chr16:79686390-79686391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571961727	chr16:79686394-79686395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12149725	chr16:79686412-79686413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560886524	chr16:79686433-79686434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575615142	chr16:79686439-79686440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543075991	chr16:79686446-79686447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs564967420	chr16:79686455-79686456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs751043	chr16:79686458-79686459	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs116155133	chr16:79686509-79686510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559993453	chr16:79686532-79686533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530366146	chr16:79686545-79686546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186905773	chr16:79686577-79686578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571407144	chr16:79686622-79686623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537423830	chr16:79686698-79686699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552304043	chr16:79686701-79686702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191752443	chr16:79686710-79686711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs534809067	chr16:79686716-79686717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs553096478	chr16:79686757-79686758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571898319	chr16:79686759-79686760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs527610716	chr16:79686787-79686788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs149046674	chr16:79686810-79686811	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs182155318	chr16:79686818-79686819	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs370156280	chr16:79686844-79686845	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs543373943	chr16:79686861-79686862	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs143346378	chr16:79686884-79686885	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs576827844	chr16:79686898-79686899	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs9937356	chr16:79686908-79686909	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs559532099	chr16:79686937-79686938	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs530301172	chr16:79686941-79686942	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs138983903	chr16:79686943-79686944	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs187988596	chr16:79686946-79686947	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs142122076	chr16:79686959-79686960	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs889791	chr16:79687003-79687004	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:68)

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
Pancreatic cancer	17952125	CNVD
Autism	19492091	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79674400-79686400	Weak transcription	Fetal Thymus	thymus
2	chr16:79676400-79687800	Weak transcription	Fetal Kidney	kidney
3	chr16:79682200-79687400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr16:79684800-79686000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr16:79684800-79686600	Enhancers	HMEC	breast
6	chr16:79684800-79688200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr16:79685000-79686000	Enhancers	Fetal Stomach	stomach
8	chr16:79685000-79686200	Enhancers	NHEK	skin
9	chr16:79685000-79688000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr16:79685000-79688200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr16:79685200-79686000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr16:79685200-79686000	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr16:79685400-79686400	Weak transcription	Right Atrium	heart
14	chr16:79685400-79686600	Enhancers	Colon Smooth Muscle	Colon
15	chr16:79685400-79686600	Weak transcription	Fetal Intestine Small	intestine
16	chr16:79685400-79688000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr16:79685400-79688000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr16:79685600-79686200	Weak transcription	Brain Anterior Caudate	brain
19	chr16:79685600-79686800	Weak transcription	Esophagus	oesophagus
20	chr16:79685600-79687200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr16:79685600-79687200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr16:79685600-79687200	Weak transcription	Lung	lung
23	chr16:79685600-79687400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr16:79685600-79687400	Weak transcription	NHDF-Ad	bronchial
25	chr16:79685600-79687600	Weak transcription	Ovary	ovary
26	chr16:79685600-79690400	Weak transcription	HSMMtube	muscle
27	chr16:79685600-79692600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr16:79685800-79686200	Weak transcription	Fetal Lung	lung
29	chr16:79685800-79686200	Weak transcription	Fetal Muscle Leg	muscle
30	chr16:79685800-79686800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr16:79685800-79687200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr16:79685800-79687200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr16:79685800-79687200	Weak transcription	Adipose Nuclei	Adipose
34	chr16:79685800-79687200	Weak transcription	Brain Hippocampus Middle	brain
35	chr16:79685800-79687200	Weak transcription	Fetal Muscle Trunk	muscle
36	chr16:79685800-79687200	Weak transcription	Stomach Mucosa	stomach
37	chr16:79685800-79691000	Weak transcription	HSMM	muscle
38	chr16:79685800-79691400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr16:79685800-79691800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr16:79685800-79691800	Weak transcription	NH-A	brain
41	chr16:79686000-79686400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr16:79686000-79686400	Weak transcription	Fetal Stomach	stomach
43	chr16:79686000-79690600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr16:79686200-79686600	Weak transcription	NHEK	skin
45	chr16:79686200-79687800	Enhancers	Fetal Lung	lung
46	chr16:79686200-79688000	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr16:79686200-79688000	Enhancers	Fetal Muscle Leg	muscle
48	chr16:79686400-79688000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr16:79686400-79688200	Enhancers	Primary hematopoietic stem cells	blood
50	chr16:79686400-79688200	Enhancers	Fetal Stomach	stomach

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