Variant report

Variant	esv3414498
Chromosome Location	chr9:3338724-3339206
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568012636	chr9:3338727-3338728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7850660	chr9:3338735-3338736	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs184256605	chr9:3338738-3338739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10971465	chr9:3338749-3338750	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs7861699	chr9:3338775-3338776	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs546510101	chr9:3338803-3338804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566154412	chr9:3338813-3338814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188273109	chr9:3338814-3338815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555048427	chr9:3338869-3338870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559625321	chr9:3338886-3338887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181400591	chr9:3338894-3338895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs66573713	chr9:3338901-3338902	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs547942504	chr9:3338905-3338906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138843759	chr9:3338930-3338931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546365035	chr9:3338934-3338935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs71506635	chr9:3338945-3338946	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs147385812	chr9:3338950-3338951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541515662	chr9:3338957-3338958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12350916	chr9:3338961-3338962	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs71506636	chr9:3338967-3338968	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs199727553	chr9:3339016-3339017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62526373	chr9:3339037-3339038	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs563265717	chr9:3339043-3339044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533305408	chr9:3339044-3339045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546769113	chr9:3339068-3339069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184102158	chr9:3339085-3339086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535645694	chr9:3339086-3339087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201479778	chr9:3339109-3339110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79463587	chr9:3339128-3339129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189161380	chr9:3339129-3339130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537028340	chr9:3339139-3339140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573522318	chr9:3339143-3339144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577114503	chr9:3339154-3339155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs55727890	chr9:3339184-3339185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553633299	chr9:3339191-3339192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573316799	chr9:3339200-3339201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542424982	chr9:3339203-3339204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Ovarian cancer	22355333	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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:3288200-3378400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr9:3293600-3352600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr9:3309400-3350400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr9:3311600-3338800	Weak transcription	Thymus	Thymus
5	chr9:3313400-3352400	Weak transcription	Primary T cells from cord blood	blood
6	chr9:3319000-3347800	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr9:3319800-3353800	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr9:3320600-3347200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr9:3322600-3348800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr9:3323800-3342000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr9:3328400-3344400	Weak transcription	Fetal Lung	lung
12	chr9:3330400-3354200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr9:3331000-3343600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr9:3333000-3352600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr9:3337000-3338800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr9:3337000-3338800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr9:3337200-3338800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr9:3337400-3338800	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr9:3337400-3338800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr9:3337400-3338800	Enhancers	NHDF-Ad	bronchial
21	chr9:3337400-3338800	Enhancers	Osteobl	bone
22	chr9:3337800-3341600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr9:3337800-3342200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr9:3337800-3343400	Weak transcription	HSMM	muscle
25	chr9:3337800-3352600	Weak transcription	Primary B cells from cord blood	blood
26	chr9:3337800-3388800	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr9:3338000-3338800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr9:3338000-3341800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr9:3338200-3343200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr9:3338600-3338800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr9:3338600-3338800	Enhancers	Brain Anterior Caudate	brain
32	chr9:3338800-3341600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr9:3338800-3341600	Weak transcription	NHDF-Ad	bronchial
34	chr9:3338800-3341800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr9:3338800-3341800	Weak transcription	Osteobl	bone
36	chr9:3338800-3342000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr9:3338800-3347000	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr9:3338800-3348200	Weak transcription	Brain Anterior Caudate	brain

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