Variant report

Variant	esv1799697
Chromosome Location	chr9:18988418-18996642
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 440 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:440 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553942572	chr9:18988425-18988426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73431285	chr9:18988452-18988453	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs577800413	chr9:18988474-18988475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546450197	chr9:18988477-18988478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564496550	chr9:18988497-18988498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377463275	chr9:18988498-18988499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138560459	chr9:18988526-18988527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562117447	chr9:18988529-18988530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144057453	chr9:18988550-18988551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572186157	chr9:18988572-18988573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115220640	chr9:18988586-18988587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372725544	chr9:18988593-18988594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539524209	chr9:18988595-18988596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551574309	chr9:18988599-18988600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150688257	chr9:18988613-18988614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139934221	chr9:18988653-18988654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377318755	chr9:18988665-18988666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555323232	chr9:18988678-18988679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565085124	chr9:18988754-18988755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537877999	chr9:18988876-18988877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149823018	chr9:18988911-18988912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369514736	chr9:18988913-18988914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113636110	chr9:18988976-18988977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs72694601	chr9:18989010-18989011	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs201756415	chr9:18989049-18989050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572061904	chr9:18989056-18989057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564712869	chr9:18989067-18989068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573310795	chr9:18989072-18989073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112660566	chr9:18989077-18989078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562286275	chr9:18989095-18989096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529526998	chr9:18989147-18989148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556218214	chr9:18989157-18989158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7870547	chr9:18989207-18989208	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs183694309	chr9:18989265-18989266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376777710	chr9:18989283-18989284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139574723	chr9:18989284-18989285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565182032	chr9:18989337-18989338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369372601	chr9:18989345-18989346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189314099	chr9:18989357-18989358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532401307	chr9:18989450-18989451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566660232	chr9:18989510-18989511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368941418	chr9:18989554-18989555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs72031049	chr9:18989555-18989556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375167846	chr9:18989566-18989567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs56265752	chr9:18989578-18989579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35326754	chr9:18989581-18989582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549149536	chr9:18989628-18989629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552683734	chr9:18989629-18989630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116401574	chr9:18989632-18989633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559290150	chr9:18989651-18989652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	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
Chronic lymphocytic leukemia	21546498	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	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
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Cancer	22183965	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Medullary thyroid carcinoma	18765511	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18985800-18991800	Weak transcription	Pancreas	Pancrea
2	chr9:18985800-18993400	Weak transcription	Fetal Thymus	thymus
3	chr9:18987400-18993600	Weak transcription	Fetal Kidney	kidney
4	chr9:18988200-18989400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr9:18989400-18990000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr9:18989600-18990000	Enhancers	Fetal Lung	lung
7	chr9:18989800-18990200	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr9:18990000-18994200	Weak transcription	Fetal Lung	lung
9	chr9:18991400-18994600	Weak transcription	Fetal Stomach	stomach
10	chr9:18992000-18992400	Enhancers	Fetal Heart	heart
11	chr9:18992200-18999200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr9:18993400-18993800	Enhancers	Fetal Thymus	thymus
13	chr9:18993600-18994400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr9:18993600-18995600	Enhancers	Fetal Kidney	kidney
15	chr9:18993800-18997200	Weak transcription	Fetal Thymus	thymus
16	chr9:18994200-18994800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr9:18994200-18995400	Enhancers	Fetal Lung	lung
18	chr9:18994400-18995000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr9:18994400-18995600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr9:18994400-18996000	Enhancers	Fetal Muscle Leg	muscle
21	chr9:18994600-18994800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr9:18994600-18995000	Enhancers	Fetal Stomach	stomach
23	chr9:18994800-18995600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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