Variant report

Variant	esv3438407
Chromosome Location	chr9:3413477-3416325
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 147 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572847425	chr9:3413477-3413478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs35625648	chr9:3413496-3413497	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs561763343	chr9:3413505-3413506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35079722	chr9:3413532-3413533	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs147937849	chr9:3413586-3413587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564339468	chr9:3413588-3413589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369789176	chr9:3413590-3413591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142613901	chr9:3413620-3413621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141635363	chr9:3413655-3413656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190811750	chr9:3413657-3413658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182051805	chr9:3413692-3413693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183737960	chr9:3413695-3413696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535162508	chr9:3413752-3413753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs16918156	chr9:3413764-3413765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556599916	chr9:3413780-3413781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147072480	chr9:3413797-3413798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs35197572	chr9:3413823-3413824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188076595	chr9:3413846-3413847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557244460	chr9:3413872-3413873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs367926620	chr9:3413917-3413918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138291444	chr9:3413961-3413962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181272413	chr9:3414036-3414037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553108933	chr9:3414043-3414044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567899653	chr9:3414065-3414066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573347203	chr9:3414072-3414073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs541954014	chr9:3414091-3414092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141815404	chr9:3414128-3414129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575211976	chr9:3414129-3414130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs17728710	chr9:3414181-3414182	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs564376087	chr9:3414217-3414218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533225756	chr9:3414246-3414247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540525674	chr9:3414247-3414248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs367697664	chr9:3414259-3414260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs138067197	chr9:3414273-3414274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529059256	chr9:3414316-3414317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs118183458	chr9:3414335-3414336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574599766	chr9:3414354-3414355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549525175	chr9:3414357-3414358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567744628	chr9:3414371-3414372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540135774	chr9:3414374-3414375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185343066	chr9:3414417-3414418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191631098	chr9:3414433-3414434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570817803	chr9:3414439-3414440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149541571	chr9:3414479-3414480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560058763	chr9:3414483-3414484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs72699083	chr9:3414488-3414489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34283600	chr9:3414507-3414508	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs545349320	chr9:3414509-3414510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567082468	chr9:3414516-3414517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562526961	chr9:3414523-3414524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
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
Autism	20808228	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:3382200-3425000	Weak transcription	Aorta	Aorta
2	chr9:3387200-3433800	Weak transcription	Pancreas	Pancrea
3	chr9:3398800-3415400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr9:3398800-3418600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:3398800-3423400	Weak transcription	Primary T cells from cord blood	blood
6	chr9:3398800-3437200	Weak transcription	Primary B cells from cord blood	blood
7	chr9:3402400-3425000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr9:3408400-3418000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr9:3410600-3414000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr9:3410800-3425000	Weak transcription	Brain Germinal Matrix	brain
11	chr9:3411000-3425400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr9:3412000-3434600	Weak transcription	Ovary	ovary
13	chr9:3412400-3415600	Weak transcription	Fetal Heart	heart
14	chr9:3413600-3414200	Enhancers	Rectal Smooth Muscle	rectum
15	chr9:3413600-3414400	Enhancers	Colon Smooth Muscle	Colon
16	chr9:3414000-3414200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr9:3414200-3414400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr9:3414200-3420200	Weak transcription	Esophagus	oesophagus
19	chr9:3414200-3426200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr9:3414400-3415800	Weak transcription	Colon Smooth Muscle	Colon
21	chr9:3414400-3424800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr9:3414600-3418400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr9:3415400-3415600	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr9:3415600-3416800	Enhancers	Fetal Heart	heart
25	chr9:3415800-3416400	Enhancers	Colon Smooth Muscle	Colon
26	chr9:3416000-3416200	Enhancers	Rectal Smooth Muscle	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links