Variant report

Variant	nsv613285
Chromosome Location	chr9:8244354-8270248
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1376 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:1376 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1781265	chr9:8244354-8244355	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs549760241	chr9:8244364-8244365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7044083	chr9:8244384-8244385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368108376	chr9:8244392-8244393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535608679	chr9:8244443-8244444	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs80218600	chr9:8244464-8244465	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs566970664	chr9:8244471-8244472	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs534076217	chr9:8244472-8244473	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs183166051	chr9:8244476-8244477	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs577117526	chr9:8244493-8244494	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs544617412	chr9:8244506-8244507	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs187601931	chr9:8244507-8244508	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs377422579	chr9:8244509-8244510	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs190532448	chr9:8244561-8244562	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs149490338	chr9:8244589-8244590	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs145959937	chr9:8244649-8244650	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs568682149	chr9:8244736-8244737	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs183238608	chr9:8244779-8244780	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs188449782	chr9:8244791-8244792	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs546937411	chr9:8244798-8244799	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs139924468	chr9:8244805-8244806	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs568344092	chr9:8244836-8244837	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs62533920	chr9:8244841-8244842	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs141695544	chr9:8244865-8244866	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs562658625	chr9:8244870-8244871	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs565842381	chr9:8244883-8244884	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs530909813	chr9:8244905-8244906	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs201839572	chr9:8244917-8244918	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs200245119	chr9:8244920-8244921	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs192669580	chr9:8244935-8244936	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs146287011	chr9:8244975-8244976	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs184607085	chr9:8244981-8244982	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs570940418	chr9:8244989-8244990	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs531515477	chr9:8244999-8245000	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs537836736	chr9:8245035-8245036	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs73415980	chr9:8245066-8245067	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs73415982	chr9:8245129-8245130	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs148479713	chr9:8245133-8245134	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs554053141	chr9:8245148-8245149	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs187524756	chr9:8245156-8245157	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs142287168	chr9:8245164-8245165	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs563989099	chr9:8245173-8245174	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs377431836	chr9:8245179-8245180	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs1781266	chr9:8245198-8245199	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs191308151	chr9:8245212-8245213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536788903	chr9:8245243-8245244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs561708941	chr9:8245260-8245261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528908442	chr9:8245267-8245268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547191647	chr9:8245283-8245284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567103228	chr9:8245293-8245294	Weak transcription Enhancers	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:153 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8244200-8244400	Enhancers	Brain Substantia Nigra	brain
2	chr9:8244200-8245200	Enhancers	Brain Hippocampus Middle	brain
3	chr9:8244400-8244800	Flanking Active TSS	Brain Substantia Nigra	brain
4	chr9:8244400-8245200	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr9:8244400-8245400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr9:8244600-8244800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr9:8244600-8244800	Enhancers	Fetal Brain Female	brain
8	chr9:8244600-8245000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr9:8244600-8245200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr9:8244600-8245400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr9:8244600-8247000	Enhancers	Brain Germinal Matrix	brain
12	chr9:8244800-8245200	Enhancers	Brain Cingulate Gyrus	brain
13	chr9:8244800-8245200	Active TSS	Brain Substantia Nigra	brain
14	chr9:8244800-8246200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr9:8244800-8246400	Weak transcription	Fetal Brain Female	brain
16	chr9:8245200-8246400	Weak transcription	Brain Hippocampus Middle	brain
17	chr9:8245400-8246400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr9:8246200-8247200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr9:8246400-8247000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:8246400-8247000	Enhancers	Fetal Brain Female	brain
21	chr9:8246600-8246800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr9:8246600-8246800	Enhancers	Brain Hippocampus Middle	brain
23	chr9:8247000-8251400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr9:8247200-8247800	Enhancers	Dnd41	blood
25	chr9:8247200-8251400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr9:8251400-8252000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr9:8251400-8252600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr9:8251600-8251800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr9:8251600-8251800	Enhancers	Pancreas	Pancrea
30	chr9:8251600-8253000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr9:8251600-8253000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr9:8251800-8263000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr9:8253000-8257400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr9:8253600-8253800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr9:8253800-8254800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr9:8254200-8254800	Weak transcription	Pancreas	Pancrea
37	chr9:8254200-8255400	Enhancers	Muscle Satellite Cultured Cells	--
38	chr9:8254400-8255200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr9:8254600-8255000	Enhancers	Osteobl	bone
40	chr9:8254800-8255000	Enhancers	Pancreas	Pancrea
41	chr9:8254800-8255200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr9:8254800-8255200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr9:8255000-8267800	Weak transcription	Pancreas	Pancrea
44	chr9:8257000-8259000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr9:8257400-8258400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr9:8257400-8258600	Enhancers	Fetal Heart	heart
47	chr9:8258000-8258200	Enhancers	Fetal Stomach	stomach
48	chr9:8258400-8261000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr9:8258600-8262600	Weak transcription	Fetal Heart	heart
50	chr9:8259000-8259200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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