Variant report

Variant	nsv819247
Chromosome Location	chr16:74086240-74088651
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:74079958..74082316-chr16:74083747..74086462,2	MCF-7	breast:
2	chr16:74072390..74076455-chr16:74084925..74088103,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CLEC18B-3	chr16:74088050-74088504	ENSG00000261404.1

Extended variants
information (count: 142 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531006821	chr16:74086250-74086251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12597028	chr16:74086300-74086301	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs567604755	chr16:74086316-74086317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201808536	chr16:74086344-74086345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200679267	chr16:74086361-74086362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577799272	chr16:74086369-74086370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551155218	chr16:74086372-74086373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536560228	chr16:74086384-74086385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536397465	chr16:74086423-74086424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556637946	chr16:74086426-74086427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186223504	chr16:74086434-74086435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189123615	chr16:74086476-74086477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576423512	chr16:74086506-74086507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181732639	chr16:74086515-74086516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557875716	chr16:74086543-74086544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373315913	chr16:74086578-74086579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537219761	chr16:74086597-74086598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs142512458	chr16:74086603-74086604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs55981730	chr16:74086616-74086617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573844020	chr16:74086632-74086633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558970088	chr16:74086636-74086637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75600842	chr16:74086662-74086663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186814002	chr16:74086691-74086692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573147410	chr16:74086692-74086693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375163257	chr16:74086725-74086726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375106163	chr16:74086726-74086727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545432955	chr16:74086752-74086753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565018234	chr16:74086764-74086765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530946019	chr16:74086790-74086791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191244713	chr16:74086797-74086798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544342358	chr16:74086828-74086829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376664440	chr16:74086829-74086830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530371906	chr16:74086830-74086831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546986033	chr16:74086834-74086835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200165152	chr16:74086852-74086853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs137934152	chr16:74086864-74086865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567192736	chr16:74086867-74086868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71391064	chr16:74086868-74086869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528068954	chr16:74086869-74086870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142085172	chr16:74086872-74086873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186060543	chr16:74086887-74086888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189778168	chr16:74086902-74086903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183534321	chr16:74086913-74086914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567362019	chr16:74086924-74086925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536489546	chr16:74086932-74086933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145857774	chr16:74087010-74087011	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs573121499	chr16:74087016-74087017	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs544987990	chr16:74087017-74087018	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs562629162	chr16:74087023-74087024	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs573784476	chr16:74087063-74087064	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Myelofibrosis	22110671	CNVD
Poland''s syndrome	22110015	CNVD
Neuroblastoma	21899760	CNVD
Liver carcinoma	19366792	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74064400-74086400	Weak transcription	Thymus	Thymus
2	chr16:74085200-74087200	Enhancers	Dnd41	blood
3	chr16:74085800-74087000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr16:74085800-74088600	Enhancers	Primary hematopoietic stem cells	blood
5	chr16:74085800-74088600	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr16:74086000-74088800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr16:74086400-74086600	Enhancers	Thymus	Thymus
8	chr16:74086400-74088400	Enhancers	Fetal Thymus	thymus
9	chr16:74086600-74087000	Weak transcription	Thymus	Thymus
10	chr16:74087000-74087400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr16:74087000-74088400	Enhancers	Thymus	Thymus
12	chr16:74087200-74088400	Flanking Active TSS	Dnd41	blood
13	chr16:74087200-74088600	Enhancers	Fetal Lung	lung
14	chr16:74087400-74088400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr16:74087400-74088400	Enhancers	Fetal Stomach	stomach
16	chr16:74087400-74089000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr16:74088400-74089000	Enhancers	Dnd41	blood

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