Variant report

Variant	nsv1025702
Chromosome Location	chr9:11647896-11725239
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:11701463..11703909-chr9:11703963..11706145,2	K562	blood:
2	chr9:11653547..11655405-chr9:11656471..11658764,2	K562	blood:
3	chr9:11687941..11690802-chr9:11691495..11694345,3	K562	blood:
4	chr9:11653547..11655405-chr9:11656471..11658764,2	K562	blood:
5	chr9:11701463..11703909-chr9:11703963..11706145,2	K562	blood:
6	chr9:11687941..11690802-chr9:11691495..11694345,3	K562	blood:

Extended variants
information (count: 769 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:769 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549152421	chr9:11650217-11650218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs185516676	chr9:11650246-11650247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141616402	chr9:11650260-11650261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150501430	chr9:11650262-11650263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566195924	chr9:11650269-11650270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538365733	chr9:11650287-11650288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138652451	chr9:11650314-11650315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568494166	chr9:11650320-11650321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537481540	chr9:11650342-11650343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555199584	chr9:11650351-11650352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs527750592	chr9:11650408-11650409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575043263	chr9:11650410-11650411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149312386	chr9:11650424-11650425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs116315155	chr9:11650428-11650429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144574145	chr9:11650452-11650453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs2586380	chr9:11650459-11650460	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs563010782	chr9:11650473-11650474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531735595	chr9:11650488-11650489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547428730	chr9:11650495-11650496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73397557	chr9:11650501-11650502	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs139657245	chr9:11650514-11650515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529959116	chr9:11650544-11650545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541194482	chr9:11650545-11650546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532740995	chr9:11650551-11650552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113725856	chr9:11650588-11650589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191914081	chr9:11650593-11650594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550992494	chr9:11650596-11650597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183299923	chr9:11650600-11650601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545360576	chr9:11656016-11656017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369378988	chr9:11656021-11656022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs527969080	chr9:11656040-11656041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565518026	chr9:11656046-11656047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113535617	chr9:11656055-11656056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571049192	chr9:11656134-11656135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540070382	chr9:11656200-11656201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556335657	chr9:11656204-11656205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181439918	chr9:11656215-11656216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs111299406	chr9:11656232-11656233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186544276	chr9:11656248-11656249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs555360367	chr9:11656306-11656307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572132630	chr9:11656312-11656313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540119093	chr9:11656325-11656326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148818384	chr9:11656332-11656333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576919839	chr9:11656391-11656392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs146924006	chr9:11656398-11656399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs73643990	chr9:11656414-11656415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569320980	chr9:11656425-11656426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569540301	chr9:11656436-11656437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541974756	chr9:11656445-11656446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs73397602	chr9:11656451-11656452	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Disorders of sex development	21048976	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
abnormal development	18461090	CNVD
Glioblastoma multiforme	21080181	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
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Cancer	20164920	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Melanoma	22183965	CNVD
Barrett''s syndrome	19417022	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Schizophrenia	18511947	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Renal cell carcinoma	21215367	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:11650200-11650600	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr9:11656000-11656800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr9:11686800-11687400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:11696400-11696600	Enhancers	Fetal Brain Male	brain
5	chr9:11696600-11697800	Weak transcription	Fetal Brain Male	brain
6	chr9:11697800-11698400	Enhancers	Fetal Brain Male	brain
7	chr9:11698400-11701800	Weak transcription	Fetal Brain Male	brain
8	chr9:11698800-11701400	Enhancers	Fetal Brain Female	brain
9	chr9:11700600-11700800	Enhancers	Brain Angular Gyrus	brain
10	chr9:11700600-11701800	Enhancers	Brain Hippocampus Middle	brain
11	chr9:11700800-11701000	Enhancers	Brain Cingulate Gyrus	brain
12	chr9:11700800-11704400	Weak transcription	Brain Angular Gyrus	brain
13	chr9:11701000-11702000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr9:11701200-11701600	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr9:11701400-11704600	Weak transcription	Fetal Brain Female	brain
16	chr9:11701600-11702000	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr9:11701800-11702200	Flanking Active TSS	Brain Hippocampus Middle	brain
18	chr9:11701800-11702200	Active TSS	Brain Substantia Nigra	brain
19	chr9:11701800-11704800	Enhancers	Fetal Brain Male	brain
20	chr9:11702000-11703600	Enhancers	Brain Cingulate Gyrus	brain
21	chr9:11702000-11703800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr9:11702200-11702400	Weak transcription	Brain Substantia Nigra	brain
23	chr9:11702200-11702800	Enhancers	Brain Hippocampus Middle	brain
24	chr9:11702400-11703200	Enhancers	Brain Substantia Nigra	brain
25	chr9:11702800-11703800	Weak transcription	Brain Hippocampus Middle	brain
26	chr9:11703200-11703600	Weak transcription	Brain Substantia Nigra	brain
27	chr9:11703600-11704000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr9:11703600-11705000	Enhancers	Brain Substantia Nigra	brain
29	chr9:11703800-11705000	Enhancers	Brain Hippocampus Middle	brain
30	chr9:11703800-11705000	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr9:11704000-11704800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr9:11704000-11705000	Enhancers	Brain Cingulate Gyrus	brain
33	chr9:11704000-11705200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr9:11704200-11705000	Enhancers	Brain Anterior Caudate	brain
35	chr9:11704400-11704800	Enhancers	Brain Angular Gyrus	brain
36	chr9:11704400-11705000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr9:11704600-11705000	Enhancers	Fetal Brain Female	brain
38	chr9:11705000-11707000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr9:11705200-11706400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr9:11705600-11706000	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr9:11706400-11708800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr9:11707000-11708200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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