Variant report

Variant	esv3378375
Chromosome Location	chr9:2449602-2451500
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 124 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112654750	chr9:2449604-2449605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs78915500	chr9:2449662-2449663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75752791	chr9:2449678-2449679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540836672	chr9:2449697-2449698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192241778	chr9:2449699-2449700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116889590	chr9:2449736-2449737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542987926	chr9:2449788-2449789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182270795	chr9:2449830-2449831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76415695	chr9:2449831-2449832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185239729	chr9:2449909-2449910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564647853	chr9:2449922-2449923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189742824	chr9:2449929-2449930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547187785	chr9:2449966-2449967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542499338	chr9:2450007-2450008	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182356520	chr9:2450014-2450015	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555799772	chr9:2450039-2450040	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575752377	chr9:2450049-2450050	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187021116	chr9:2450073-2450074	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569205721	chr9:2450083-2450084	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142069720	chr9:2450103-2450104	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558188337	chr9:2450106-2450107	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369084275	chr9:2450132-2450133	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534335232	chr9:2450149-2450150	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76887314	chr9:2450163-2450164	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs117583234	chr9:2450197-2450198	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114203005	chr9:2450204-2450205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556596668	chr9:2450207-2450208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138391980	chr9:2450272-2450273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544682388	chr9:2450275-2450276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149254207	chr9:2450278-2450279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545136221	chr9:2450282-2450283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62529509	chr9:2450296-2450297	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs374849012	chr9:2450301-2450302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540762699	chr9:2450318-2450319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368099556	chr9:2450328-2450329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191198110	chr9:2450334-2450335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376791626	chr9:2450345-2450346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200540724	chr9:2450346-2450347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201466714	chr9:2450352-2450353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369335583	chr9:2450356-2450357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs199604740	chr9:2450358-2450359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200477581	chr9:2450360-2450361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112084617	chr9:2450362-2450363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372310706	chr9:2450368-2450369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373846548	chr9:2450370-2450371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs76896350	chr9:2450378-2450379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71491999	chr9:2450379-2450380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113913021	chr9:2450384-2450385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377075945	chr9:2450387-2450388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376846367	chr9:2450388-2450389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Gastric cancer	16715143	CNVD
Glioblastoma multiforme	22286061	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
Disorders of sex development	21048976	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
Oral squamous cell carcinoma	17134496	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
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
Myelofibrosis	22110671	CNVD
Developmental delay	21373258	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2442000-2450000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr9:2442200-2450000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr9:2443800-2469000	Weak transcription	Ovary	ovary
4	chr9:2444800-2453600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr9:2447400-2451400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr9:2450000-2450200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr9:2450200-2469600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr9:2451000-2462000	Weak transcription	Left Ventricle	heart
9	chr9:2451400-2452800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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