Variant report

Variant	nsv471284
Chromosome Location	chr9:12479157-12513587
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:43095234..43095797-chr9:12480274..12480774,2	MCF-7	breast:
2	chr9:12495478..12497603-chr9:12499554..12502350,2	MCF-7	breast:
3	chr9:12495478..12497603-chr9:12499554..12502350,2	MCF-7	breast:
4	chr9:12494239..12495105-chr9:12503977..12504835,2	MCF-7	breast:
5	chr9:12494239..12495105-chr9:12503977..12504835,2	MCF-7	breast:

Extended variants
information (count: 427 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563697485	chr9:12483211-12483212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1576659	chr9:12483221-12483222	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs182100110	chr9:12483255-12483256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569635995	chr9:12483262-12483263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535656150	chr9:12483263-12483264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548877865	chr9:12483268-12483269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565985871	chr9:12483275-12483276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534877265	chr9:12483280-12483281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188295161	chr9:12483311-12483312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376238736	chr9:12483324-12483325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150732481	chr9:12483346-12483347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192575127	chr9:12483347-12483348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535278630	chr9:12483378-12483379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139045580	chr9:12483399-12483400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556649962	chr9:12483422-12483423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535331082	chr9:12483467-12483468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs370859166	chr9:12483472-12483473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542429247	chr9:12483481-12483482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561897756	chr9:12483504-12483505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572414615	chr9:12483515-12483516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541365581	chr9:12483532-12483533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555234975	chr9:12483541-12483542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147224717	chr9:12483546-12483547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532978147	chr9:12483566-12483567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs371249785	chr9:12483583-12483584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373126937	chr9:12483638-12483639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs117746287	chr9:12483644-12483645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs75314284	chr9:12483645-12483646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs117390514	chr9:12483687-12483688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543474047	chr9:12483715-12483716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373429614	chr9:12483721-12483722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs78706333	chr9:12483734-12483735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs571548609	chr9:12483739-12483740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539835119	chr9:12483740-12483741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs76913899	chr9:12483767-12483768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs117506518	chr9:12483784-12483785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535536753	chr9:12483804-12483805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555431870	chr9:12483829-12483830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185362027	chr9:12483859-12483860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189892404	chr9:12483875-12483876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192631295	chr9:12483893-12483894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs13284853	chr9:12483917-12483918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10960680	chr9:12483941-12483942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184682971	chr9:12483970-12483971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs563100270	chr9:12483981-12483982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528873780	chr9:12484042-12484043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs58654493	chr9:12484044-12484045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs397815179	chr9:12484059-12484060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs370658182	chr9:12484065-12484066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs62542329	chr9:12484103-12484104	Enhancers	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
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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:12483200-12484200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr9:12490600-12491200	Enhancers	Fetal Heart	heart
3	chr9:12493000-12493600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr9:12494200-12495800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr9:12495000-12496000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr9:12495400-12496200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr9:12495800-12496400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr9:12495800-12496400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr9:12496000-12496600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr9:12496800-12497000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr9:12497800-12499000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr9:12503800-12504200	Enhancers	Fetal Lung	lung
13	chr9:12511600-12512800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr9:12511800-12512200	Enhancers	Fetal Brain Female	brain
15	chr9:12512800-12513000	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr9:12512800-12513800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr9:12513000-12514200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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