Variant report

Variant	esv3354209
Chromosome Location	chr9:8639052-8643250
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 228 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:228 , 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	rs115874041	chr9:8639053-8639054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560237719	chr9:8639055-8639056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572163351	chr9:8639059-8639060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114014696	chr9:8639068-8639069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565457850	chr9:8639069-8639070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184459460	chr9:8639076-8639077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550961095	chr9:8639121-8639122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575357664	chr9:8639137-8639138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190020767	chr9:8639174-8639175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76027630	chr9:8639187-8639188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566559436	chr9:8639193-8639194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534006194	chr9:8639218-8639219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs578049417	chr9:8639224-8639225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192668252	chr9:8639289-8639290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs72698266	chr9:8639366-8639367	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs538053050	chr9:8639425-8639426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138931781	chr9:8639432-8639433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540469947	chr9:8639444-8639445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs61600422	chr9:8639445-8639446	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs560883878	chr9:8639447-8639448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs367686899	chr9:8639504-8639505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184713803	chr9:8639526-8639527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535423918	chr9:8639546-8639547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553788798	chr9:8639554-8639555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77833403	chr9:8639595-8639596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545888794	chr9:8639602-8639603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564188224	chr9:8639625-8639626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577329240	chr9:8639630-8639631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs72698268	chr9:8639633-8639634	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs545802311	chr9:8639655-8639656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78289929	chr9:8639660-8639661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530402497	chr9:8639664-8639665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs72698270	chr9:8639687-8639688	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs560085270	chr9:8639688-8639689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527693349	chr9:8639710-8639711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529181042	chr9:8639716-8639717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148463695	chr9:8639737-8639738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113506391	chr9:8639754-8639755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549938755	chr9:8639782-8639783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568197689	chr9:8639800-8639801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73425442	chr9:8639806-8639807	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs189177780	chr9:8639821-8639822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141725194	chr9:8639823-8639824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539451645	chr9:8639855-8639856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs180736226	chr9:8639896-8639897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115817326	chr9:8639913-8639914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189263668	chr9:8639931-8639932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543184381	chr9:8639955-8639956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556693174	chr9:8639993-8639994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574953722	chr9:8639997-8639998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	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
Developmental delay	21147756	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
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Metastatic melanoma	18483359	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	21811587	CNVD
Pancreatic ductal adenocarcinoma	19077451	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8616800-8648000	Weak transcription	Fetal Kidney	kidney
2	chr9:8622000-8648600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr9:8623400-8647800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr9:8628400-8643600	Weak transcription	Fetal Muscle Leg	muscle
5	chr9:8628800-8644000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr9:8628800-8644200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr9:8629800-8651600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr9:8630000-8640800	Weak transcription	Fetal Heart	heart
9	chr9:8630200-8652400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr9:8631000-8649800	Weak transcription	Ovary	ovary
11	chr9:8633200-8644200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr9:8634000-8641000	Weak transcription	Fetal Lung	lung
13	chr9:8634200-8643800	Weak transcription	Brain Hippocampus Middle	brain
14	chr9:8634600-8648000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr9:8636600-8643400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr9:8638000-8648000	Weak transcription	Fetal Brain Male	brain
17	chr9:8640800-8641800	Enhancers	Fetal Heart	heart
18	chr9:8641000-8641200	Enhancers	Fetal Lung	lung
19	chr9:8642200-8642600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr9:8642200-8642800	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr9:8642400-8643000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr9:8642600-8647800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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