Variant report

Variant	esv275275
Chromosome Location	chr16:82885218-82886879
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573050913	chr16:82885249-82885250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs112413968	chr16:82885282-82885283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs79711006	chr16:82885288-82885289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75103331	chr16:82885289-82885290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs3046491	chr16:82885292-82885293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs80269437	chr16:82885299-82885300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541710272	chr16:82885308-82885309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561696135	chr16:82885311-82885312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs145585185	chr16:82885313-82885314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138095457	chr16:82885342-82885343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs35071729	chr16:82885348-82885349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564570558	chr16:82885385-82885386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11150501	chr16:82885413-82885414	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs547127656	chr16:82885421-82885422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568690174	chr16:82885432-82885433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536091587	chr16:82885452-82885453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185908968	chr16:82885466-82885467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs9936407	chr16:82885468-82885469	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs190977696	chr16:82885493-82885494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181305689	chr16:82885509-82885510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs368458001	chr16:82885582-82885583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185613903	chr16:82885599-82885600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556704245	chr16:82885668-82885669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534151918	chr16:82885674-82885675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190183616	chr16:82885675-82885676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539167380	chr16:82885689-82885690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553071724	chr16:82885696-82885697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572950519	chr16:82885699-82885700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs141779119	chr16:82885710-82885711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561633795	chr16:82885737-82885738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs76831387	chr16:82885761-82885762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs544174715	chr16:82885794-82885795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs150569947	chr16:82885833-82885834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533427091	chr16:82885869-82885870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182757196	chr16:82885886-82885887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577375756	chr16:82885892-82885893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546771484	chr16:82885903-82885904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560661546	chr16:82885906-82885907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs538324066	chr16:82885917-82885918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549611182	chr16:82885918-82885919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139567820	chr16:82885945-82885946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs149281883	chr16:82885952-82885953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs147367588	chr16:82885964-82885965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs575082816	chr16:82886011-82886012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570341050	chr16:82886015-82886016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs375995235	chr16:82886056-82886057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs539465620	chr16:82886075-82886076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs286674	chr16:82886096-82886097	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs76301828	chr16:82886107-82886108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535237927	chr16:82886117-82886118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Autism	20531469	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82848200-82898200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr16:82863200-82892800	Weak transcription	HSMMtube	muscle
3	chr16:82876800-82892400	Weak transcription	HSMM	muscle
4	chr16:82879200-82886000	Weak transcription	Right Ventricle	heart
5	chr16:82879200-82907000	Weak transcription	Left Ventricle	heart
6	chr16:82879400-82891400	Weak transcription	Fetal Muscle Leg	muscle
7	chr16:82880800-82889200	Weak transcription	Psoas Muscle	Psoas
8	chr16:82880800-82892000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr16:82880800-82892000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr16:82880800-82893200	Weak transcription	NHEK	skin
11	chr16:82881400-82886000	Weak transcription	Aorta	Aorta
12	chr16:82881400-82892400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr16:82881400-82897600	Weak transcription	HMEC	breast
14	chr16:82882000-82892200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr16:82885000-82885600	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr16:82885200-82886800	Enhancers	Fetal Heart	heart
17	chr16:82885600-82886000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr16:82885800-82886800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr16:82886000-82886200	Enhancers	Right Ventricle	heart
20	chr16:82886000-82886200	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr16:82886000-82886400	Enhancers	Aorta	Aorta
22	chr16:82886200-82886400	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr16:82886200-82890400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr16:82886200-82917000	Weak transcription	Right Ventricle	heart
25	chr16:82886400-82898000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr16:82886400-82898600	Weak transcription	Aorta	Aorta
27	chr16:82886800-82889000	Weak transcription	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links