Variant report

Variant	nsv528532
Chromosome Location	chr9:12907902-12910295
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 128 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13293601	chr9:12907902-12907903	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs16929881	chr9:12907929-12907930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576027666	chr9:12907936-12907937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs16929883	chr9:12907969-12907970	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs539313760	chr9:12907970-12907971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150816086	chr9:12907972-12907973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373300818	chr9:12908028-12908029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571939241	chr9:12908055-12908056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540707645	chr9:12908056-12908057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560424038	chr9:12908088-12908089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10960830	chr9:12908106-12908107	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs10756423	chr9:12908130-12908131	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs139266542	chr9:12908158-12908159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149998107	chr9:12908202-12908203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10738298	chr9:12908215-12908216	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs114273177	chr9:12908219-12908220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534162406	chr9:12908225-12908226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377230611	chr9:12908236-12908237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116541690	chr9:12908237-12908238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570500244	chr9:12908238-12908239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539377939	chr9:12908259-12908260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555532795	chr9:12908292-12908293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555902562	chr9:12908293-12908294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575904576	chr9:12908298-12908299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10809858	chr9:12908303-12908304	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs540841130	chr9:12908313-12908314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10738299	chr9:12908314-12908315	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs377335403	chr9:12908353-12908354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10756424	chr9:12908447-12908448	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs374703272	chr9:12908457-12908458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74681900	chr9:12908460-12908461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369318925	chr9:12908492-12908493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554194767	chr9:12908496-12908497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147695244	chr9:12908569-12908570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187558610	chr9:12908582-12908583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192803972	chr9:12908590-12908591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562889943	chr9:12908606-12908607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183814036	chr9:12908681-12908682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548642599	chr9:12908706-12908707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10960831	chr9:12908711-12908712	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs187830267	chr9:12908724-12908725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142474536	chr9:12908726-12908727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77340745	chr9:12908744-12908745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10960832	chr9:12908784-12908785	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs568237573	chr9:12908816-12908817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527745131	chr9:12908839-12908840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112747056	chr9:12908863-12908864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569295492	chr9:12908869-12908870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146653075	chr9:12908870-12908871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372144087	chr9:12908871-12908872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	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
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
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:12905000-12915600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr9:12907200-12908000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr9:12909000-12909400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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