Variant report

Variant	esv15547
Chromosome Location	chr16:47872598-47878432
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PHKB-7	chr16:47873311-47873777	l_1318_chr16:47873310-47881874_testes
2	lnc-PHKB-7	chr16:47876426-47877035	l_1318_chr16:47873310-47881874_testes

Extended variants
information (count: 264 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:264 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184670513	chr16:47872615-47872616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556842513	chr16:47872622-47872623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112901513	chr16:47872630-47872631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537813266	chr16:47872633-47872634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554277382	chr16:47872658-47872659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574145710	chr16:47872689-47872690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539982486	chr16:47872711-47872712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140472583	chr16:47872753-47872754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553540032	chr16:47872759-47872760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189361440	chr16:47872773-47872774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562775145	chr16:47872848-47872849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs77650956	chr16:47872858-47872859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531526359	chr16:47872889-47872890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs536963919	chr16:47872971-47872972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542168563	chr16:47872982-47872983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112707213	chr16:47872983-47872984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570315678	chr16:47872987-47872988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527784377	chr16:47873035-47873036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs373767148	chr16:47873054-47873055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191896886	chr16:47873081-47873082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184416490	chr16:47873082-47873083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564646983	chr16:47873093-47873094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149890407	chr16:47873094-47873095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs370997879	chr16:47873142-47873143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550122676	chr16:47873162-47873163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143867700	chr16:47873163-47873164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs62057522	chr16:47873193-47873194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535774334	chr16:47873200-47873201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548161630	chr16:47873224-47873225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs375522630	chr16:47873226-47873227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567757610	chr16:47873228-47873229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs144898460	chr16:47873241-47873242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200936538	chr16:47873245-47873246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553480984	chr16:47873264-47873265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576553176	chr16:47873306-47873307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539588325	chr16:47873355-47873356	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs112378961	chr16:47873362-47873363	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs576240770	chr16:47873370-47873371	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs368140954	chr16:47873372-47873373	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs141788960	chr16:47873373-47873374	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs113989164	chr16:47873374-47873375	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs189066453	chr16:47873375-47873376	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs535130010	chr16:47873399-47873400	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs201890615	chr16:47873415-47873416	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs71287503	chr16:47873416-47873417	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs398038296	chr16:47873419-47873420	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs564535584	chr16:47873426-47873427	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs533474749	chr16:47873467-47873468	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs181214092	chr16:47873480-47873481	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs186525480	chr16:47873481-47873482	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164920	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	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
Renal cell carcinoma	18765545	CNVD
Sudden cardiac death	19188705	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Colorectal cancer	19359472	CNVD
Olfactory neuroblastoma	18408657	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47871600-47876800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr16:47872400-47876000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr16:47872800-47874200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr16:47874200-47874600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr16:47874600-47874800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr16:47874800-47881400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr16:47876000-47876200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr16:47876200-47876600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr16:47876600-47877400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr16:47876800-47877200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr16:47876800-47877200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr16:47876800-47877200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr16:47876800-47877400	Enhancers	H9 Cell Line	embryonic stem cell
14	chr16:47876800-47877400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr16:47876800-47877400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr16:47877200-47880800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr16:47877200-47880800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr16:47877400-47880400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr16:47877400-47880600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr16:47877400-47881200	Weak transcription	H9 Cell Line	embryonic stem cell

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