Variant report

Variant	nsv1027298
Chromosome Location	chr9:24644778-24764074
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:24701524..24703601-chr9:24705420..24708259,2	MCF-7	breast:
2	chr9:24707506..24710193-chr9:24712883..24715358,2	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: 388 )
Associated
traits (count: 143 )

Variant overlapped rSNPs/rCNVs (count:388 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4300089	chr9:24648400-24648401	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs151242487	chr9:24648409-24648410	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs1332674	chr9:24648449-24648450	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs371861399	chr9:24648477-24648478	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs74952276	chr9:24648494-24648495	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs571381488	chr9:24648495-24648496	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs529926971	chr9:24648505-24648506	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs376022353	chr9:24648513-24648514	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs553336463	chr9:24648517-24648518	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs573375209	chr9:24648539-24648540	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs10812069	chr9:24648552-24648553	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs556001162	chr9:24648558-24648559	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs10966367	chr9:24648567-24648568	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs530816512	chr9:24648625-24648626	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs544212958	chr9:24648648-24648649	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs4416914	chr9:24648676-24648677	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs577721113	chr9:24648695-24648696	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs10966368	chr9:24648712-24648713	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs190448798	chr9:24648714-24648715	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs528720850	chr9:24648729-24648730	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs113208243	chr9:24648730-24648731	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs4416915	chr9:24648746-24648747	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs548273363	chr9:24648754-24648755	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs562341983	chr9:24648761-24648762	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs568169099	chr9:24648773-24648774	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs4391521	chr9:24648778-24648779	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs571258280	chr9:24648785-24648786	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs182745538	chr9:24648788-24648789	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs369357305	chr9:24648799-24648800	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs117586097	chr9:24648801-24648802	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs374825367	chr9:24648807-24648808	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs536066393	chr9:24648810-24648811	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs555644116	chr9:24648823-24648824	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs575539936	chr9:24648831-24648832	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs140536802	chr9:24648837-24648838	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs185559446	chr9:24648855-24648856	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs547957845	chr9:24648951-24648952	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs113884518	chr9:24648997-24648998	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs540408728	chr9:24648998-24648999	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs2095095	chr9:24649010-24649011	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs574023047	chr9:24649015-24649016	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs56376815	chr9:24649030-24649031	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs562634300	chr9:24649032-24649033	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs531682396	chr9:24649058-24649059	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs545312266	chr9:24649071-24649072	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs564907877	chr9:24649076-24649077	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs527257891	chr9:24649086-24649087	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs547047426	chr9:24649106-24649107	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs144473326	chr9:24649118-24649119	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs551774682	chr9:24649126-24649127	ZNF genes & repeats	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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:24648400-24650200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr9:24648600-24650000	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr9:24649600-24650000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr9:24649600-24650000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr9:24649600-24650000	ZNF genes & repeats	Pancreas	Pancrea
6	chr9:24659600-24660400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr9:24673600-24674000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr9:24681200-24682000	Enhancers	Fetal Brain Male	brain
9	chr9:24698600-24699400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr9:24698800-24699200	Active TSS	Adipose Nuclei	Adipose
11	chr9:24698800-24699200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
12	chr9:24698800-24699200	Active TSS	Ovary	ovary
13	chr9:24698800-24699400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr9:24698800-24699400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr9:24698800-24699400	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr9:24698800-24699400	Active TSS	Primary hematopoietic stem cells	blood
17	chr9:24698800-24699400	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr9:24698800-24699400	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr9:24698800-24699400	Active TSS	Fetal Muscle Leg	muscle
20	chr9:24698800-24699400	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr9:24698800-24699400	Active TSS	Dnd41	blood
22	chr9:24699000-24699200	Enhancers	Liver	Liver
23	chr9:24699000-24699400	Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr9:24699000-24699400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr9:24699000-24699400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr9:24699000-24699400	Active TSS	Brain Angular Gyrus	brain
27	chr9:24699000-24699400	Active TSS	Colon Smooth Muscle	Colon
28	chr9:24699000-24699400	Active TSS	Fetal Kidney	kidney
29	chr9:24699000-24699400	Active TSS	Stomach Smooth Muscle	stomach
30	chr9:24699000-24699400	Active TSS	HMEC	breast
31	chr9:24699200-24699400	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr9:24737400-24737800	Active TSS	Fetal Heart	heart
33	chr9:24737800-24738200	Enhancers	Fetal Muscle Trunk	muscle
34	chr9:24738000-24739000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr9:24738400-24739000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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