Variant report

Variant	nsv973845
Chromosome Location	chr9:25416468-25442946
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:25415705..25417320-chr9:25422040..25423787,2	MCF-7	breast:
2	chr9:25418497..25420216-chr9:25675741..25678077,2	MCF-7	breast:
3	chr9:25415705..25417320-chr9:25422040..25423787,2	MCF-7	breast:

Extended variants
information (count: 221 )
Associated
traits (count: 145 )

Variant overlapped rSNPs/rCNVs (count:221 , 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	rs112236638	chr9:25416490-25416491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs114218372	chr9:25416525-25416526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540303419	chr9:25416535-25416536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1831078	chr9:25416556-25416557	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs145058767	chr9:25416558-25416559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1576041	chr9:25416577-25416578	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs138792937	chr9:25416581-25416582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190247925	chr9:25416582-25416583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs182757478	chr9:25416590-25416591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1576040	chr9:25416627-25416628	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs539571456	chr9:25416663-25416664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74525042	chr9:25416687-25416688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79951806	chr9:25416756-25416757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535453936	chr9:25416757-25416758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555427481	chr9:25416760-25416761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73642362	chr9:25416769-25416770	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs370343518	chr9:25416811-25416812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1576039	chr9:25416812-25416813	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs557954846	chr9:25416813-25416814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73469887	chr9:25416870-25416871	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs540365625	chr9:25416871-25416872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188453062	chr9:25416886-25416887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146311732	chr9:25416906-25416907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548087227	chr9:25416908-25416909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542651313	chr9:25416911-25416912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74986634	chr9:25416954-25416955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531256365	chr9:25416957-25416958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1576038	chr9:25416962-25416963	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs542372546	chr9:25417152-25417153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371084318	chr9:25417165-25417166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558753438	chr9:25417178-25417179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546736285	chr9:25417204-25417205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566628206	chr9:25417211-25417212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529307698	chr9:25417226-25417227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7848520	chr9:25417276-25417277	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs192089700	chr9:25417294-25417295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538169824	chr9:25417302-25417303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148582189	chr9:25417327-25417328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571510311	chr9:25417348-25417349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570535880	chr9:25417351-25417352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183910297	chr9:25417385-25417386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142030765	chr9:25417409-25417410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573792321	chr9:25417414-25417415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1610342	chr9:25417418-25417419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189219065	chr9:25417433-25417434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150666373	chr9:25417440-25417441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537992881	chr9:25417447-25417448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191413387	chr9:25417472-25417473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7862439	chr9:25417474-25417475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575929893	chr9:25417489-25417490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:145)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	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
Oral squamous cell carcinoma	17134496	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
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Cancer	22183965	CNVD
Myelofibrosis	22110671	CNVD
Ewing''s sarcoma	22429812	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung cancer	21911935	CNVD
Primary central nervous system lymphoma	21088137	CNVD
head and neck squamous cell carcinoma	21798897	CNVD
Cancer	21253487	CNVD
Glioblastoma multiforme	22286061	CNVD
Intracranial ependymoma	16609018	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Urothelial cell carcinoma	18451213	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Leukemia	19602459	CNVD
Acute monocytic leukemia	16498392	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Leukemia	18688285	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Acute myeloid leukemia	19651601	CNVD
Coronary Disease	20032323	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21732550	CNVD
Gastric cancer	22539939	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Metastatic melanoma	18483359	CNVD
Non-small cell lung cancer	20864512	CNVD
Cervical cancer	21062161	CNVD
Acute myeloid leukemia	16864856	CNVD
Glioblastoma	17090523	CNVD
Lung cancer	16773561	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16774939	CNVD
Bladder cancer	19088036	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	16977458	CNVD
Glioblastoma multiforme	17369134	CNVD
Chagasic megaesophagus	20163722	CNVD
Melanoma	19566914	CNVD
Squamous cell cancer	19047905	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Adenoid cystic carcinoma	18332873	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Pancreatic cancer	21811587	CNVD
Bipolar disorder	19114987	CNVD
Non-small cell lung cancer	16651412	CNVD
early-passage human iPS cells	21368824	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:25414800-25416600	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr9:25415200-25416800	Enhancers	Brain Germinal Matrix	brain
3	chr9:25415400-25416600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr9:25416200-25416600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr9:25416600-25417000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr9:25416600-25418200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr9:25418200-25419800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr9:25420200-25420600	Active TSS	Fetal Heart	heart
9	chr9:25427800-25428200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr9:25438800-25439200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr9:25442200-25443600	Enhancers	Fetal Kidney	kidney
12	chr9:25442400-25443200	Enhancers	Rectal Mucosa Donor 31	rectum

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