Variant report

Variant	esv1819530
Chromosome Location	chr9:10394286-10405076
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 214 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:214 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1924087	chr9:10394286-10394287	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs745002	chr9:10394296-10394297	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs116966943	chr9:10394299-10394300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs193234477	chr9:10394314-10394315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs942155	chr9:10394337-10394338	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs552685395	chr9:10394339-10394340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147475176	chr9:10394357-10394358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373928022	chr9:10394370-10394371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569568496	chr9:10394380-10394381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34652726	chr9:10394386-10394387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555734559	chr9:10394401-10394402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371391686	chr9:10394415-10394416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532120280	chr9:10394430-10394431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540890929	chr9:10394453-10394454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377363234	chr9:10394456-10394457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76686314	chr9:10394562-10394563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs578042622	chr9:10394581-10394582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543938810	chr9:10394588-10394589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575827012	chr9:10394593-10394594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372599812	chr9:10394650-10394651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78745320	chr9:10394653-10394654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529275698	chr9:10394665-10394666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376454074	chr9:10394667-10394668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114886187	chr9:10394681-10394682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559632397	chr9:10394735-10394736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187841687	chr9:10394749-10394750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140018578	chr9:10394777-10394778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200705845	chr9:10394791-10394792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs398113230	chr9:10394792-10394793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551684877	chr9:10394798-10394799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192179680	chr9:10394814-10394815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532875837	chr9:10394894-10394895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549947544	chr9:10394898-10394899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369892971	chr9:10394902-10394903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs942156	chr9:10394910-10394911	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs535460369	chr9:10394911-10394912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74940625	chr9:10394931-10394932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201112180	chr9:10394957-10394958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71332742	chr9:10394958-10394959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565840751	chr9:10394959-10394960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs71501066	chr9:10394961-10394962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200243683	chr9:10394965-10394966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34786789	chr9:10394975-10394976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145339709	chr9:10394986-10394987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147680193	chr9:10394988-10394989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560230325	chr9:10394995-10394996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543487311	chr9:10395013-10395014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116098586	chr9:10395022-10395023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552331860	chr9:10395027-10395028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183624211	chr9:10395041-10395042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:117)

Disease	PMID	Source
abnormal development	18461090	CNVD
Disorders of sex development	21048976	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
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Cancer	20164920	CNVD
Lung cancer	20668451	CNVD
Schizophrenia	20838587	CNVD
Glioblastoma	18772890	CNVD
Glioblastoma multiforme	21390271	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21611746	CNVD
Melanoma	22183965	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Barrett''s syndrome	19417022	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:10387800-10395800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:10395800-10396000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:10395800-10396200	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr9:10396000-10397200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr9:10396600-10397000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr9:10397200-10397400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr9:10397200-10398000	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr9:10398800-10399200	Enhancers	Fetal Heart	heart

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