Variant report

Variant	esv3428948
Chromosome Location	chr9:1557001-1593153
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 378 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:378 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7034616	chr9:1557007-1557008	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs114273584	chr9:1557008-1557009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545812838	chr9:1557023-1557024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540812728	chr9:1557027-1557028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149117637	chr9:1557052-1557053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs57786814	chr9:1557061-1557062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs55723338	chr9:1557062-1557063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143271879	chr9:1557073-1557074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12336108	chr9:1557102-1557103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs72692354	chr9:1557129-1557130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543839948	chr9:1557142-1557143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115122479	chr9:1557154-1557155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562856474	chr9:1557180-1557181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531701782	chr9:1557203-1557204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188863098	chr9:1557212-1557213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs71491978	chr9:1557225-1557226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565336360	chr9:1557233-1557234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112513806	chr9:1557245-1557246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115847467	chr9:1557259-1557260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143932121	chr9:1557264-1557265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562767327	chr9:1557277-1557278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576177726	chr9:1557282-1557283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181615651	chr9:1557306-1557307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150635489	chr9:1557334-1557335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76393345	chr9:1557343-1557344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs72692355	chr9:1557353-1557354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115262390	chr9:1557406-1557407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187061741	chr9:1557434-1557435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372867481	chr9:1557438-1557439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139171998	chr9:1557458-1557459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78860229	chr9:1557462-1557463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76576971	chr9:1557463-1557464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs80119454	chr9:1557464-1557465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10962044	chr9:1557471-1557472	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs542833862	chr9:1557528-1557529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562794623	chr9:1557534-1557535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552383258	chr9:1557537-1557538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149929363	chr9:1557540-1557541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192319279	chr9:1557548-1557549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527763058	chr9:1557594-1557595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144980898	chr9:1557618-1557619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561391385	chr9:1557619-1557620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs74308122	chr9:1557632-1557633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74345487	chr9:1557638-1557639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs771929	chr9:1557647-1557648	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs11999159	chr9:1557709-1557710	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs551335737	chr9:1557712-1557713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550706484	chr9:1557735-1557736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139975142	chr9:1557751-1557752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114373010	chr9:1557754-1557755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Lynch syndrome	18415027	CNVD
Retinoblastoma	21504564	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	22286061	CNVD
Williams-beuren syndrome	18553513	CNVD
Disorders of sex development	21048976	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
prenatal diagnosis	20453657	CNVD
Gastric cancer	16715143	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	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
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
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1549400-1558600	Weak transcription	Adipose Nuclei	Adipose
2	chr9:1558400-1559200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
3	chr9:1558600-1558800	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr9:1574600-1575000	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr9:1575400-1576200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr9:1575800-1576200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr9:1579800-1580200	Enhancers	GM12878-XiMat	blood
8	chr9:1580200-1580600	Active TSS	GM12878-XiMat	blood
9	chr9:1589000-1589200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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