Variant report

Variant	nsv1018508
Chromosome Location	chr9:24689202-24722814
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:24707506..24710193-chr9:24712883..24715358,2	MCF-7	breast:
2	chr9:24701524..24703601-chr9:24705420..24708259,2	MCF-7	breast:
3	chr9:24701524..24703601-chr9:24705420..24708259,2	MCF-7	breast:
4	chr9:24707506..24710193-chr9:24712883..24715358,2	MCF-7	breast:

Extended variants
information (count: 51 )
Associated
traits (count: 142 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368819861	chr9:24698644-24698645	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs559867425	chr9:24698674-24698675	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs528819041	chr9:24698681-24698682	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs189437101	chr9:24698705-24698706	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs10966406	chr9:24698741-24698742	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs147553970	chr9:24698745-24698746	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs192390991	chr9:24698763-24698764	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs535058426	chr9:24698770-24698771	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs199911886	chr9:24698775-24698776	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs184540476	chr9:24698782-24698783	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs539894140	chr9:24698789-24698790	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs546495352	chr9:24698848-24698849	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs573257835	chr9:24698862-24698863	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs371441752	chr9:24698864-24698865	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs535411768	chr9:24698874-24698875	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs555239188	chr9:24698917-24698918	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs574934339	chr9:24698948-24698949	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs188952439	chr9:24698950-24698951	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs557281416	chr9:24698966-24698967	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs544800723	chr9:24698997-24698998	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs577683660	chr9:24699005-24699006	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540287394	chr9:24699008-24699009	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141973579	chr9:24699021-24699022	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573383572	chr9:24699023-24699024	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73655015	chr9:24699024-24699025	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146069514	chr9:24699027-24699028	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531186857	chr9:24699037-24699038	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375620673	chr9:24699055-24699056	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs80291133	chr9:24699056-24699057	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564440993	chr9:24699057-24699058	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs34184418	chr9:24699058-24699059	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs117130184	chr9:24699060-24699061	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547047877	chr9:24699079-24699080	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181321104	chr9:24699087-24699088	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186435247	chr9:24699095-24699096	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs78153715	chr9:24699151-24699152	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs118057441	chr9:24699161-24699162	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs537718287	chr9:24699198-24699199	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557346425	chr9:24699199-24699200	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577549479	chr9:24699216-24699217	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs572663715	chr9:24699253-24699254	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs533698130	chr9:24699282-24699283	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs189284058	chr9:24699283-24699284	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs138643988	chr9:24699297-24699298	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs148913842	chr9:24699305-24699306	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs562240906	chr9:24699320-24699321	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs576025671	chr9:24699353-24699354	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs12555793	chr9:24699362-24699363	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs75381072	chr9:24699373-24699374	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs564349599	chr9:24699375-24699376	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:142)

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
Melanoma	17363583	CNVD
Glioblastoma multiforme	19115005	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
Lung cancer	21569311	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:24698600-24699400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr9:24698800-24699200	Active TSS	Adipose Nuclei	Adipose
3	chr9:24698800-24699200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
4	chr9:24698800-24699200	Active TSS	Ovary	ovary
5	chr9:24698800-24699400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr9:24698800-24699400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr9:24698800-24699400	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr9:24698800-24699400	Active TSS	Primary hematopoietic stem cells	blood
9	chr9:24698800-24699400	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr9:24698800-24699400	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr9:24698800-24699400	Active TSS	Fetal Muscle Leg	muscle
12	chr9:24698800-24699400	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr9:24698800-24699400	Active TSS	Dnd41	blood
14	chr9:24699000-24699200	Enhancers	Liver	Liver
15	chr9:24699000-24699400	Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr9:24699000-24699400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr9:24699000-24699400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr9:24699000-24699400	Active TSS	Brain Angular Gyrus	brain
19	chr9:24699000-24699400	Active TSS	Colon Smooth Muscle	Colon
20	chr9:24699000-24699400	Active TSS	Fetal Kidney	kidney
21	chr9:24699000-24699400	Active TSS	Stomach Smooth Muscle	stomach
22	chr9:24699000-24699400	Active TSS	HMEC	breast
23	chr9:24699200-24699400	Flanking Active TSS	Adipose Nuclei	Adipose

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