Variant report

Variant	nsv968564
Chromosome Location	chr9:11479707-11494344
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 533 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:533 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189597593	chr9:11481801-11481802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182120279	chr9:11481848-11481849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142129755	chr9:11481906-11481907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565785459	chr9:11481919-11481920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150741410	chr9:11481958-11481959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551699249	chr9:11481966-11481967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571797179	chr9:11481972-11481973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139060201	chr9:11481986-11481987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370138968	chr9:11482046-11482047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573954969	chr9:11482050-11482051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185641130	chr9:11482055-11482056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552919014	chr9:11482066-11482067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573015269	chr9:11482119-11482120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545467194	chr9:11482120-11482121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371914524	chr9:11482137-11482138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7875355	chr9:11482159-11482160	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs577761727	chr9:11482166-11482167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543396601	chr9:11482179-11482180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563612270	chr9:11482216-11482217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574317011	chr9:11482219-11482220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535017281	chr9:11482227-11482228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147641468	chr9:11482304-11482305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528230932	chr9:11482315-11482316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551435779	chr9:11482324-11482325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116919440	chr9:11482325-11482326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112692018	chr9:11482326-11482327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569771919	chr9:11482357-11482358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535503553	chr9:11482367-11482368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373246740	chr9:11482396-11482397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7860367	chr9:11482402-11482403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7860368	chr9:11482408-11482409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79317832	chr9:11482413-11482414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567639866	chr9:11482415-11482416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369383862	chr9:11482418-11482419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552982203	chr9:11482430-11482431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566505109	chr9:11482460-11482461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538800897	chr9:11482488-11482489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140566329	chr9:11482571-11482572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs59185297	chr9:11482584-11482585	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs549040063	chr9:11482590-11482591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543608581	chr9:11482594-11482595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375683624	chr9:11482602-11482603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574002061	chr9:11482625-11482626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201611336	chr9:11482630-11482631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542929281	chr9:11482638-11482639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13299523	chr9:11482648-11482649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190100698	chr9:11482694-11482695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs62552537	chr9:11482695-11482696	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs372395384	chr9:11482700-11482701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557068817	chr9:11482736-11482737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:11481800-11482200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr9:11482200-11485800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr9:11485800-11486200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr9:11485800-11487400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr9:11486200-11490600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr9:11487400-11489000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr9:11489000-11492200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr9:11490600-11490800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr9:11491200-11492000	Enhancers	Fetal Heart	heart
10	chr9:11492000-11492800	Weak transcription	Fetal Heart	heart
11	chr9:11492800-11493000	Enhancers	Fetal Heart	heart

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