Variant report

Variant	nsv524095
Chromosome Location	chr9:12672097-12677412
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	chr9:12607055..12609983-chr9:12671838..12674027,2	K562	blood:

Extended variants
information (count: 246 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:246 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1408799	chr9:12672097-12672098	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
2	rs552995226	chr9:12672112-12672113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116056014	chr9:12672121-12672122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs62538946	chr9:12672130-12672131	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs564965952	chr9:12672146-12672147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374654001	chr9:12672154-12672155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192997786	chr9:12672155-12672156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs367895087	chr9:12672209-12672210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182514824	chr9:12672213-12672214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148401089	chr9:12672246-12672247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529909043	chr9:12672250-12672251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568140772	chr9:12672260-12672261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1408800	chr9:12672275-12672276	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs537296003	chr9:12672301-12672302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1408801	chr9:12672320-12672321	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs551446695	chr9:12672324-12672325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571617332	chr9:12672345-12672346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537653384	chr9:12672357-12672358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557231268	chr9:12672379-12672380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9919017	chr9:12672396-12672397	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs536942433	chr9:12672405-12672406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187982303	chr9:12672480-12672481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs193047952	chr9:12672484-12672485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144008343	chr9:12672486-12672487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376035448	chr9:12672571-12672572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185756104	chr9:12672576-12672577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146448161	chr9:12672604-12672605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs140929755	chr9:12672609-12672610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188905744	chr9:12672727-12672728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs79286117	chr9:12672736-12672737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536254364	chr9:12672739-12672740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs77306624	chr9:12672741-12672742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs79537851	chr9:12672754-12672755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192163782	chr9:12672848-12672849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528484224	chr9:12672901-12672902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184712898	chr9:12672927-12672928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs144366978	chr9:12672929-12672930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs530898984	chr9:12673008-12673009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs118035917	chr9:12673031-12673032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs151092629	chr9:12673044-12673045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs141073290	chr9:12673117-12673118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553717269	chr9:12673124-12673125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10809820	chr9:12673237-12673238	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs538643150	chr9:12673238-12673239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs150270347	chr9:12673248-12673249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575341365	chr9:12673250-12673251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs111753866	chr9:12673281-12673282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs77687584	chr9:12673293-12673294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs397894104	chr9:12673296-12673297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537543043	chr9:12673302-12673303	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
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
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:12671800-12672600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr9:12672600-12675400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr9:12674400-12676400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr9:12675400-12675600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr9:12675600-12677400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr9:12676400-12681000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr9:12677400-12677800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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