Variant report

Variant	esv15881
Chromosome Location	chr16:80191198-80193029
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:80192243..80194874-chr16:80195006..80196589,2	K562	blood:
2	chr16:80192745..80194874-chr16:80195006..80196730,2	K562	blood:
3	chr16:80110668..80112262-chr16:80192001..80193923,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DYNLRB2-3	chr16:80191528-80191552	ENSG00000260706.1
2	lnc-CDYL2-6	chr16:80191511-80191579	ENSG00000259867.1

Extended variants
information (count: 132 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546488158	chr16:80191229-80191230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376700720	chr16:80191238-80191239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557748097	chr16:80191258-80191259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568047208	chr16:80191277-80191278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs67015612	chr16:80191305-80191306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535249164	chr16:80191340-80191341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201652806	chr16:80191366-80191367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs59097038	chr16:80191380-80191381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200396312	chr16:80191381-80191382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568824587	chr16:80191388-80191389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568653332	chr16:80191391-80191392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539527830	chr16:80191392-80191393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557421025	chr16:80191396-80191397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572790764	chr16:80191410-80191411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533809834	chr16:80191418-80191419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556082122	chr16:80191419-80191420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs72381597	chr16:80191431-80191432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371715831	chr16:80191433-80191434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs398100321	chr16:80191434-80191435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147718035	chr16:80191461-80191462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544793916	chr16:80191463-80191464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12102687	chr16:80191464-80191465	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs183800578	chr16:80191494-80191495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545487254	chr16:80191519-80191520	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs560428148	chr16:80191527-80191528	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs527662672	chr16:80191537-80191538	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs548993366	chr16:80191548-80191549	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs2126992	chr16:80191549-80191550	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs12103203	chr16:80191561-80191562	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs113626353	chr16:80191593-80191594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12102804	chr16:80191607-80191608	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs539491418	chr16:80191623-80191624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78793016	chr16:80191627-80191628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188764896	chr16:80191628-80191629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573029728	chr16:80191631-80191632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144908329	chr16:80191650-80191651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551444216	chr16:80191693-80191694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12103210	chr16:80191694-80191695	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs555545942	chr16:80191698-80191699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs151319489	chr16:80191700-80191701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140454794	chr16:80191710-80191711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191958203	chr16:80191734-80191735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538548853	chr16:80191739-80191740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542303854	chr16:80191762-80191763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556434921	chr16:80191773-80191774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs578122617	chr16:80191782-80191783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545319514	chr16:80191783-80191784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12102710	chr16:80191821-80191822	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs12103219	chr16:80191840-80191841	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs545704068	chr16:80191881-80191882	Enhancers Weak transcription	n/a	n/a	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
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80186400-80191800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr16:80186400-80191800	Weak transcription	NH-A	brain
3	chr16:80186600-80191200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr16:80186600-80191600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr16:80186600-80191800	Weak transcription	Osteobl	bone
6	chr16:80186600-80192600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr16:80186600-80197600	Weak transcription	HSMMtube	muscle
8	chr16:80191200-80193600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr16:80191600-80193600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr16:80191800-80193400	Enhancers	Osteobl	bone
11	chr16:80191800-80193600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr16:80191800-80193600	Enhancers	NH-A	brain
13	chr16:80191800-80193800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr16:80192000-80193400	Enhancers	HMEC	breast
15	chr16:80192000-80193600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr16:80192000-80193600	Enhancers	HUVEC	blood vessel
17	chr16:80192200-80193600	Enhancers	NHEK	skin
18	chr16:80192400-80193200	Enhancers	A549	lung
19	chr16:80192400-80193400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr16:80192400-80193600	Enhancers	HSMM	muscle
21	chr16:80192600-80193000	Enhancers	NHDF-Ad	bronchial
22	chr16:80192600-80193200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr16:80192600-80193200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr16:80192600-80193400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr16:80192600-80193600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr16:80192800-80193400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr16:80192800-80193400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr16:80192800-80193400	Enhancers	NHLF	lung
29	chr16:80192800-80197600	Weak transcription	Pancreas	Pancrea

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