Variant report

Variant	esv1820684
Chromosome Location	chr9:16911765-16914167
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 150 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:150 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369670072	chr9:16911786-16911787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544656577	chr9:16911792-16911793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12376676	chr9:16911803-16911804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190345784	chr9:16911814-16911815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533311308	chr9:16911823-16911824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545464310	chr9:16911831-16911832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557966767	chr9:16911832-16911833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564362225	chr9:16911840-16911841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528430800	chr9:16911861-16911862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113828701	chr9:16911883-16911884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568217762	chr9:16911889-16911890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529093515	chr9:16911938-16911939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12376692	chr9:16911944-16911945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114847475	chr9:16911964-16911965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568865617	chr9:16911972-16911973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574252835	chr9:16911992-16911993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10558963	chr9:16911993-16911994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539045991	chr9:16912006-16912007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs57687617	chr9:16912020-16912021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376655700	chr9:16912021-16912022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs12002916	chr9:16912022-16912023	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs566799314	chr9:16912062-16912063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534193122	chr9:16912074-16912075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182009216	chr9:16912104-16912105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185203748	chr9:16912123-16912124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs79019129	chr9:16912128-16912129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531332878	chr9:16912132-16912133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs556615074	chr9:16912165-16912166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs139191158	chr9:16912168-16912169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113553825	chr9:16912184-16912185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs371423102	chr9:16912203-16912204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs12345274	chr9:16912216-16912217	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs540499104	chr9:16912240-16912241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561846588	chr9:16912262-16912263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529040785	chr9:16912295-16912296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114239421	chr9:16912308-16912309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373697729	chr9:16912322-16912323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs182531391	chr9:16912340-16912341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs368170400	chr9:16912344-16912345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144070367	chr9:16912353-16912354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs4961504	chr9:16912372-16912373	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs186369381	chr9:16912430-16912431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10810668	chr9:16912435-16912436	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs371924363	chr9:16912443-16912444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs111395327	chr9:16912466-16912467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191620004	chr9:16912487-16912488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567911469	chr9:16912500-16912501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183407920	chr9:16912513-16912514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs10962686	chr9:16912522-16912523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs58442763	chr9:16912533-16912534	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:82)

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
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
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	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
Breast cancer	21611746	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16902000-16914800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr9:16911800-16912800	Enhancers	Muscle Satellite Cultured Cells	--
3	chr9:16911800-16912800	Enhancers	A549	lung
4	chr9:16912200-16912800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr9:16912200-16912800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr9:16912200-16912800	Enhancers	Osteobl	bone
7	chr9:16912800-16914800	Weak transcription	Osteobl	bone
8	chr9:16912800-16915200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr9:16912800-16921800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr9:16912800-16928000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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