Variant report

Variant	nsv892804
Chromosome Location	chr9:24671671-24745047
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	chr9:24707506..24710193-chr9:24712883..24715358,2	MCF-7	breast:
4	chr9:24701524..24703601-chr9:24705420..24708259,2	MCF-7	breast:

Extended variants
information (count: 196 )
Associated
traits (count: 143 )

Variant overlapped rSNPs/rCNVs (count:196 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547065205	chr9:24673645-24673646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550122186	chr9:24673647-24673648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187331895	chr9:24673661-24673662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115049562	chr9:24673685-24673686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191697192	chr9:24673756-24673757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575892344	chr9:24673795-24673796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372117715	chr9:24673796-24673797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536823978	chr9:24673826-24673827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565157640	chr9:24673854-24673855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558197153	chr9:24673858-24673859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs578050920	chr9:24673878-24673879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568330593	chr9:24673879-24673880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532181724	chr9:24673885-24673886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540732712	chr9:24673908-24673909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139973816	chr9:24673942-24673943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114257280	chr9:24673953-24673954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149860446	chr9:24673966-24673967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192246154	chr9:24681215-24681216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs143269122	chr9:24681224-24681225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574633367	chr9:24681237-24681238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570361946	chr9:24681295-24681296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7041172	chr9:24681307-24681308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546427927	chr9:24681373-24681374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566541688	chr9:24681383-24681384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534923973	chr9:24681432-24681433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554762402	chr9:24681434-24681435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574643920	chr9:24681452-24681453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537354416	chr9:24681455-24681456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569893121	chr9:24681520-24681521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557621549	chr9:24681568-24681569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs370857510	chr9:24681603-24681604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577214314	chr9:24681604-24681605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs78762652	chr9:24681660-24681661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140523271	chr9:24681661-24681662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147032131	chr9:24681685-24681686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568975630	chr9:24681690-24681691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185792486	chr9:24681750-24681751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561869338	chr9:24681762-24681763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189436926	chr9:24681803-24681804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs11792143	chr9:24681808-24681809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs144892662	chr9:24681855-24681856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530383953	chr9:24681874-24681875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544558853	chr9:24681890-24681891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs114995959	chr9:24681917-24681918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs532819811	chr9:24681945-24681946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs35878818	chr9:24681950-24681951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs35206334	chr9:24681996-24681997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs368819861	chr9:24698644-24698645	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs559867425	chr9:24698674-24698675	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs528819041	chr9:24698681-24698682	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:143)

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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:24673600-24674000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr9:24681200-24682000	Enhancers	Fetal Brain Male	brain
3	chr9:24698600-24699400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr9:24698800-24699200	Active TSS	Adipose Nuclei	Adipose
5	chr9:24698800-24699200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
6	chr9:24698800-24699200	Active TSS	Ovary	ovary
7	chr9:24698800-24699400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr9:24698800-24699400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr9:24698800-24699400	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr9:24698800-24699400	Active TSS	Primary hematopoietic stem cells	blood
11	chr9:24698800-24699400	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr9:24698800-24699400	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr9:24698800-24699400	Active TSS	Fetal Muscle Leg	muscle
14	chr9:24698800-24699400	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr9:24698800-24699400	Active TSS	Dnd41	blood
16	chr9:24699000-24699200	Enhancers	Liver	Liver
17	chr9:24699000-24699400	Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr9:24699000-24699400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr9:24699000-24699400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr9:24699000-24699400	Active TSS	Brain Angular Gyrus	brain
21	chr9:24699000-24699400	Active TSS	Colon Smooth Muscle	Colon
22	chr9:24699000-24699400	Active TSS	Fetal Kidney	kidney
23	chr9:24699000-24699400	Active TSS	Stomach Smooth Muscle	stomach
24	chr9:24699000-24699400	Active TSS	HMEC	breast
25	chr9:24699200-24699400	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr9:24737400-24737800	Active TSS	Fetal Heart	heart
27	chr9:24737800-24738200	Enhancers	Fetal Muscle Trunk	muscle
28	chr9:24738000-24739000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr9:24738400-24739000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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