Variant report

Variant	nsv613286
Chromosome Location	chr9:8247628-8270248
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1238 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:1238 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1416592	chr9:8247628-8247629	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541470285	chr9:8247632-8247633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1416593	chr9:8247641-8247642	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs1416594	chr9:8247644-8247645	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs551521377	chr9:8247695-8247696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183085933	chr9:8247701-8247702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531281598	chr9:8247719-8247720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549590822	chr9:8247726-8247727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187050635	chr9:8247768-8247769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533559766	chr9:8247816-8247817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs55991821	chr9:8247900-8247901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534906623	chr9:8247926-8247927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546643471	chr9:8247927-8247928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs199847256	chr9:8247930-8247931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551343559	chr9:8247943-8247944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574633064	chr9:8247948-8247949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571267674	chr9:8247992-8247993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538612843	chr9:8247995-8247996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556566707	chr9:8248005-8248006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575179842	chr9:8248013-8248014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs56003652	chr9:8248030-8248031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553425754	chr9:8248035-8248036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs56408196	chr9:8248042-8248043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536180891	chr9:8248066-8248067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554447699	chr9:8248146-8248147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374601242	chr9:8248148-8248149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572674934	chr9:8248155-8248156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9695994	chr9:8248159-8248160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377595517	chr9:8248160-8248161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9407408	chr9:8248164-8248165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs55873115	chr9:8248171-8248172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540071149	chr9:8248186-8248187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559783354	chr9:8248206-8248207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571221881	chr9:8248227-8248228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576871340	chr9:8248238-8248239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545385171	chr9:8248243-8248244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10815801	chr9:8248255-8248256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530940037	chr9:8248296-8248297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549649932	chr9:8248310-8248311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561588010	chr9:8248326-8248327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143804579	chr9:8248334-8248335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556129287	chr9:8248335-8248336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147986242	chr9:8248343-8248344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111453631	chr9:8248344-8248345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142309538	chr9:8248373-8248374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568473010	chr9:8248379-8248380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535867938	chr9:8248410-8248411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191473547	chr9:8248416-8248417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573090020	chr9:8248465-8248466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533967900	chr9:8248475-8248476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
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
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
Medulloblastoma	16783165	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	21811587	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8247000-8251400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:8247200-8247800	Enhancers	Dnd41	blood
3	chr9:8247200-8251400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr9:8251400-8252000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:8251400-8252600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr9:8251600-8251800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:8251600-8251800	Enhancers	Pancreas	Pancrea
8	chr9:8251600-8253000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr9:8251600-8253000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr9:8251800-8263000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr9:8253000-8257400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr9:8253600-8253800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr9:8253800-8254800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr9:8254200-8254800	Weak transcription	Pancreas	Pancrea
15	chr9:8254200-8255400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr9:8254400-8255200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr9:8254600-8255000	Enhancers	Osteobl	bone
18	chr9:8254800-8255000	Enhancers	Pancreas	Pancrea
19	chr9:8254800-8255200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr9:8254800-8255200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr9:8255000-8267800	Weak transcription	Pancreas	Pancrea
22	chr9:8257000-8259000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr9:8257400-8258400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr9:8257400-8258600	Enhancers	Fetal Heart	heart
25	chr9:8258000-8258200	Enhancers	Fetal Stomach	stomach
26	chr9:8258400-8261000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr9:8258600-8262600	Weak transcription	Fetal Heart	heart
28	chr9:8259000-8259200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr9:8259000-8259400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr9:8259200-8263000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr9:8259400-8261800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr9:8260200-8261600	Weak transcription	Ovary	ovary
33	chr9:8260600-8261800	Enhancers	Fetal Intestine Small	intestine
34	chr9:8260600-8266000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr9:8260800-8261200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr9:8261000-8262200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr9:8261400-8261600	Weak transcription	Fetal Stomach	stomach
38	chr9:8261400-8261800	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr9:8261400-8262000	Enhancers	Primary B cells from peripheral blood	blood
40	chr9:8261400-8262000	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr9:8261400-8262000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr9:8261400-8263400	Enhancers	Fetal Thymus	thymus
43	chr9:8261400-8263400	Enhancers	Thymus	Thymus
44	chr9:8261600-8261800	Enhancers	Fetal Stomach	stomach
45	chr9:8261600-8261800	Enhancers	Dnd41	blood
46	chr9:8261600-8262000	Enhancers	Fetal Lung	lung
47	chr9:8261600-8262200	Enhancers	Primary B cells from cord blood	blood
48	chr9:8261600-8263200	Enhancers	Ovary	ovary
49	chr9:8261600-8263600	Enhancers	Colon Smooth Muscle	Colon
50	chr9:8261800-8262000	Enhancers	Placenta	Placenta

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