Variant report

Variant	esv3389464
Chromosome Location	chr16:82912226-82914624
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 113 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11649390	chr16:82912234-82912235	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs138496312	chr16:82912249-82912250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs60761157	chr16:82912252-82912253	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs573089758	chr16:82912272-82912273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79592485	chr16:82912275-82912276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562014904	chr16:82912281-82912282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs118079821	chr16:82912307-82912308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143037667	chr16:82912316-82912317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377505372	chr16:82912320-82912321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs67974511	chr16:82912344-82912345	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs17674039	chr16:82912374-82912375	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs146136986	chr16:82912421-82912422	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs148348401	chr16:82912425-82912426	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs536103483	chr16:82912429-82912430	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs549271175	chr16:82912446-82912447	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs114839476	chr16:82912460-82912461	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs141473242	chr16:82912472-82912473	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs556573106	chr16:82912500-82912501	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs544920352	chr16:82912501-82912502	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs375492356	chr16:82912507-82912508	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs369611005	chr16:82912528-82912529	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs576850179	chr16:82912534-82912535	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs9933935	chr16:82912571-82912572	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs553124725	chr16:82912618-82912619	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs117794999	chr16:82912621-82912622	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs16958804	chr16:82912656-82912657	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs561978277	chr16:82912690-82912691	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs575644836	chr16:82912693-82912694	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs542351820	chr16:82912727-82912728	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs560660956	chr16:82912763-82912764	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs185571882	chr16:82912766-82912767	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs374550070	chr16:82912777-82912778	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs564516846	chr16:82912823-82912824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs377444770	chr16:82912831-82912832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540378740	chr16:82912885-82912886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs371046239	chr16:82912900-82912901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs17674111	chr16:82912930-82912931	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs529488215	chr16:82912956-82912957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188620176	chr16:82912992-82912993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543419278	chr16:82913001-82913002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12446672	chr16:82913036-82913037	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs532290740	chr16:82913074-82913075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113388791	chr16:82913102-82913103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531910664	chr16:82913116-82913117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550158016	chr16:82913140-82913141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570394918	chr16:82913188-82913189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565269022	chr16:82913291-82913292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11150509	chr16:82913312-82913313	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs11150510	chr16:82913389-82913390	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs57707546	chr16:82913435-82913436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Non-small cell lung cancer	21829676	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16461572	CNVD
Melanoma	20688739	CNVD
Myelofibrosis	22110671	CNVD
Alveolar capillary dysplasia	19500772	CNVD
VACTERL syndrome	21315191	CNVD
T-cell lymphomas	19863542	CNVD
Developmental delay	19490664	CNVD
Neuroblastoma	18923191	CNVD
Adrenocortical carcinoma	18281524	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82886200-82917000	Weak transcription	Right Ventricle	heart
2	chr16:82905600-82921000	Weak transcription	Fetal Muscle Leg	muscle
3	chr16:82905800-82924800	Weak transcription	HSMM	muscle
4	chr16:82905800-82925200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:82908600-82912400	Weak transcription	Colon Smooth Muscle	Colon
6	chr16:82908800-82914000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr16:82908800-82915000	Weak transcription	Left Ventricle	heart
8	chr16:82908800-82915000	Weak transcription	Right Atrium	heart
9	chr16:82908800-82922000	Weak transcription	Aorta	Aorta
10	chr16:82909000-82915000	Weak transcription	Fetal Brain Male	brain
11	chr16:82909400-82915200	Weak transcription	HUVEC	blood vessel
12	chr16:82909800-82921600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr16:82910400-82932600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr16:82910800-82913000	Enhancers	Rectal Smooth Muscle	rectum
15	chr16:82911000-82921800	Weak transcription	HSMMtube	muscle
16	chr16:82911800-82913000	Enhancers	Stomach Smooth Muscle	stomach
17	chr16:82911800-82915000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr16:82912000-82912400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr16:82912200-82912600	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr16:82912200-82912800	Enhancers	Psoas Muscle	Psoas
21	chr16:82912400-82912800	Flanking Active TSS	Colon Smooth Muscle	Colon
22	chr16:82912400-82916000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr16:82912400-82916400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr16:82912600-82912800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr16:82912800-82914800	Weak transcription	Psoas Muscle	Psoas
26	chr16:82912800-82921600	Weak transcription	Colon Smooth Muscle	Colon
27	chr16:82913000-82914800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr16:82913000-82915400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr16:82913000-82921800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr16:82913800-82915200	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr16:82914000-82914200	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr16:82914000-82914400	Enhancers	Brain Germinal Matrix	brain
33	chr16:82914200-82914600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr16:82914400-82915400	Weak transcription	Brain Germinal Matrix	brain
35	chr16:82914600-82918200	Enhancers	Skeletal Muscle Female	skeletal muscle

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