Variant report

Variant	nsv1019231
Chromosome Location	chr9:2959507-2988314
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:2937731..2940554-chr9:2963806..2965673,2	K562	blood:

Extended variants
information (count: 923 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:923 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569995031	chr9:2959538-2959539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187168874	chr9:2959544-2959545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372664940	chr9:2959556-2959557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12338734	chr9:2959557-2959558	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs543111144	chr9:2959640-2959641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141992348	chr9:2959656-2959657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559821739	chr9:2959659-2959660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554280867	chr9:2959696-2959697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573284409	chr9:2959714-2959715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs117925498	chr9:2959715-2959716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79153283	chr9:2959716-2959717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556321955	chr9:2959720-2959721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114294836	chr9:2959743-2959744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192468358	chr9:2959777-2959778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116445613	chr9:2959778-2959779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375805707	chr9:2959800-2959801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527294101	chr9:2959833-2959834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143173907	chr9:2959886-2959887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201706024	chr9:2959895-2959896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561085101	chr9:2959914-2959915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75832950	chr9:2959928-2959929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148281880	chr9:2959953-2959954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141361297	chr9:2959957-2959958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113038004	chr9:2959977-2959978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552508356	chr9:2960000-2960001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565826754	chr9:2960001-2960002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534242388	chr9:2960002-2960003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533011419	chr9:2960058-2960059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115205136	chr9:2960069-2960070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111745130	chr9:2960071-2960072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567779354	chr9:2960074-2960075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183922817	chr9:2960104-2960105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372880312	chr9:2960134-2960135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150763591	chr9:2960148-2960149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543321482	chr9:2960152-2960153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576235499	chr9:2960155-2960156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73383657	chr9:2960169-2960170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562908982	chr9:2960202-2960203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553437962	chr9:2960204-2960205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34492175	chr9:2960213-2960214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187676833	chr9:2960223-2960224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572647378	chr9:2960239-2960240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35618805	chr9:2960250-2960251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139665633	chr9:2960261-2960262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566853179	chr9:2960264-2960265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114415988	chr9:2960269-2960270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543544184	chr9:2960272-2960273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563331479	chr9:2960289-2960290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532387576	chr9:2960319-2960320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548729916	chr9:2960342-2960343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Gastric cancer	16715143	CNVD
Glioblastoma multiforme	22286061	CNVD
Esophageal squamous carcinoma	18405350	CNVD
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
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	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
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21373258	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Ovarian cancer	22355333	CNVD
Autism	20808228	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2958400-2963000	Weak transcription	Fetal Brain Male	brain
2	chr9:2958600-2960800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr9:2958600-2961600	Weak transcription	NHDF-Ad	bronchial
4	chr9:2960800-2963600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr9:2961600-2969000	Enhancers	NHDF-Ad	bronchial
6	chr9:2962200-2963200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr9:2962200-2963200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr9:2962200-2963200	Enhancers	NHEK	skin
9	chr9:2962400-2962600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr9:2962600-2962800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr9:2962600-2964000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr9:2962800-2966600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr9:2963000-2963600	Enhancers	Fetal Brain Male	brain
14	chr9:2963200-2963400	Enhancers	Fetal Stomach	stomach
15	chr9:2963200-2968000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr9:2963400-2963600	Enhancers	Fetal Brain Female	brain
17	chr9:2963400-2964200	Weak transcription	Fetal Stomach	stomach
18	chr9:2963600-2964000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr9:2963600-2964400	Weak transcription	Fetal Brain Male	brain
20	chr9:2963600-2966400	Weak transcription	Fetal Brain Female	brain
21	chr9:2964000-2965800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr9:2964000-2967400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr9:2964200-2964400	Enhancers	Fetal Stomach	stomach
24	chr9:2964400-2964800	Enhancers	Fetal Brain Male	brain
25	chr9:2964400-2965000	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr9:2964400-2965200	Enhancers	Adipose Nuclei	Adipose
27	chr9:2964400-2965800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr9:2964400-2966600	Weak transcription	Fetal Stomach	stomach
29	chr9:2964400-2966800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr9:2964600-2965200	Enhancers	HepG2	liver
31	chr9:2964800-2965000	Weak transcription	Fetal Brain Male	brain
32	chr9:2964800-2965200	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr9:2965000-2965600	Enhancers	Fetal Brain Male	brain
34	chr9:2965200-2966400	Weak transcription	Adipose Nuclei	Adipose
35	chr9:2965600-2966600	Weak transcription	Fetal Brain Male	brain
36	chr9:2965800-2966200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr9:2965800-2966400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr9:2966200-2966800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr9:2966400-2966600	Enhancers	Fetal Kidney	kidney
40	chr9:2966400-2967800	Enhancers	Fetal Brain Female	brain
41	chr9:2966400-2968200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr9:2966400-2968200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr9:2966400-2968400	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr9:2966400-2968400	Enhancers	Adipose Nuclei	Adipose
45	chr9:2966600-2967000	Enhancers	Fetal Stomach	stomach
46	chr9:2966600-2967200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr9:2966600-2967200	Enhancers	Fetal Brain Male	brain
48	chr9:2966600-2967800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr9:2966600-2967800	Enhancers	Brain Germinal Matrix	brain
50	chr9:2966800-2967200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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