Variant report

Variant	esv2762798
Chromosome Location	chr9:16385811-16389383
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf93-9	chr9:16388788-16388980	NONHSAT130287
2	lnc-BNC2-1	chr9:16386793-16386928	NONHSAT130286

Extended variants
information (count: 196 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:196 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551078190	chr9:16385853-16385854	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs373559416	chr9:16385876-16385877	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs566190162	chr9:16385908-16385909	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs534128942	chr9:16385956-16385957	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs555588062	chr9:16385971-16385972	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs567838467	chr9:16385984-16385985	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs538188863	chr9:16385994-16385995	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs556793062	chr9:16386028-16386029	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs577974881	chr9:16386032-16386033	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs147054383	chr9:16386079-16386080	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs554313873	chr9:16386120-16386121	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs572621564	chr9:16386126-16386127	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs115927515	chr9:16386132-16386133	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs147621971	chr9:16386137-16386138	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs73413350	chr9:16386151-16386152	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs544202208	chr9:16386181-16386182	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs567951157	chr9:16386187-16386188	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs530366255	chr9:16386198-16386199	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs562768818	chr9:16386203-16386204	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532774396	chr9:16386229-16386230	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571935256	chr9:16386252-16386253	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566128461	chr9:16386256-16386257	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140825933	chr9:16386259-16386260	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548651144	chr9:16386298-16386299	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150179573	chr9:16386305-16386306	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138646238	chr9:16386339-16386340	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556592445	chr9:16386353-16386354	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571866393	chr9:16386389-16386390	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540721845	chr9:16386390-16386391	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369969661	chr9:16386411-16386412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539035411	chr9:16386418-16386419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554252319	chr9:16386435-16386436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149313384	chr9:16386444-16386445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543173559	chr9:16386469-16386470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145262813	chr9:16386486-16386487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538772186	chr9:16386509-16386510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573770670	chr9:16386512-16386513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544355920	chr9:16386519-16386520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373432204	chr9:16386534-16386535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192739681	chr9:16386549-16386550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533103440	chr9:16386608-16386609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113898536	chr9:16386621-16386622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527271015	chr9:16386632-16386633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536538920	chr9:16386637-16386638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182348328	chr9:16386639-16386640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142488011	chr9:16386674-16386675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531819043	chr9:16386679-16386680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111486927	chr9:16386681-16386682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540985511	chr9:16386685-16386686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148570037	chr9:16386723-16386724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Glioblastoma multiforme	18628472	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16385200-16387000	Enhancers	NHDF-Ad	bronchial
2	chr9:16385400-16386000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr9:16385400-16386600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr9:16385400-16386800	Enhancers	HSMM	muscle
5	chr9:16385400-16387000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr9:16385400-16387000	Enhancers	Osteobl	bone
7	chr9:16385600-16386000	Enhancers	Hela-S3	cervix
8	chr9:16385600-16386200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr9:16385600-16386200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr9:16385600-16386200	Enhancers	Fetal Stomach	stomach
11	chr9:16385600-16386200	Enhancers	HUVEC	blood vessel
12	chr9:16385600-16386400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr9:16385600-16386400	Enhancers	NHEK	skin
14	chr9:16385600-16386600	Enhancers	NH-A	brain
15	chr9:16385600-16386800	Enhancers	NHLF	lung
16	chr9:16385600-16387000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr9:16385800-16386200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr9:16385800-16386200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr9:16385800-16386400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr9:16385800-16386800	Enhancers	Adipose Nuclei	Adipose
21	chr9:16386000-16386400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr9:16386000-16386400	Enhancers	Liver	Liver
23	chr9:16386000-16386400	Flanking Active TSS	Hela-S3	cervix
24	chr9:16386000-16386400	Enhancers	HSMMtube	muscle
25	chr9:16386000-16386800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr9:16386000-16386800	Enhancers	A549	lung
27	chr9:16386000-16387000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr9:16386000-16387000	Enhancers	HMEC	breast
29	chr9:16386200-16386600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr9:16386200-16387000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr9:16386200-16387200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr9:16386200-16388600	Weak transcription	Fetal Stomach	stomach
33	chr9:16386400-16387000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr9:16386400-16387000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr9:16386400-16387000	Enhancers	Hela-S3	cervix
36	chr9:16387000-16388400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr9:16387400-16389000	Enhancers	Fetal Thymus	thymus
38	chr9:16387800-16388400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr9:16388400-16388600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr9:16388400-16388800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr9:16388600-16388800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr9:16388800-16393400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr9:16389000-16390200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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