Variant report

Variant	nsv892802
Chromosome Location	chr9:24617369-24745047
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	chr9:24701524..24703601-chr9:24705420..24708259,2	MCF-7	breast:
4	chr9:24707506..24710193-chr9:24712883..24715358,2	MCF-7	breast:

Extended variants
information (count: 470 )
Associated
traits (count: 144 )

Variant overlapped rSNPs/rCNVs (count:470 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146201107	chr9:24620609-24620610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs186517254	chr9:24620644-24620645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530564296	chr9:24620653-24620654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191326294	chr9:24620671-24620672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12115192	chr9:24620728-24620729	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs13285602	chr9:24620736-24620737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs13284759	chr9:24620737-24620738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139203402	chr9:24620756-24620757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531942335	chr9:24620761-24620762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182696741	chr9:24620792-24620793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571923520	chr9:24620835-24620836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534197720	chr9:24620848-24620849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554423672	chr9:24620864-24620865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12115195	chr9:24620879-24620880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371751528	chr9:24620900-24620901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189597279	chr9:24620909-24620910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183242487	chr9:24620911-24620912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544814934	chr9:24620934-24620935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187562666	chr9:24620993-24620994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs74954133	chr9:24621013-24621014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542491745	chr9:24621042-24621043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191748004	chr9:24621071-24621072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12115222	chr9:24621093-24621094	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs543393829	chr9:24621129-24621130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs371218049	chr9:24621139-24621140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532209669	chr9:24621152-24621153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs117664365	chr9:24621161-24621162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565365851	chr9:24621188-24621189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs527870744	chr9:24621206-24621207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs547816970	chr9:24621208-24621209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142505960	chr9:24621238-24621239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs567946513	chr9:24621244-24621245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs35012406	chr9:24621260-24621261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs34838283	chr9:24621284-24621285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536250662	chr9:24621292-24621293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs16908661	chr9:24621304-24621305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562488982	chr9:24621305-24621306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569832455	chr9:24621324-24621325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183656860	chr9:24621349-24621350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572475639	chr9:24621367-24621368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188094495	chr9:24621377-24621378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs7041483	chr9:24621394-24621395	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs371279199	chr9:24621419-24621420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554569634	chr9:24621438-24621439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs143867452	chr9:24621448-24621449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192882273	chr9:24621469-24621470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535919471	chr9:24621511-24621512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs148620504	chr9:24621518-24621519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576885403	chr9:24621529-24621530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs111748695	chr9:24621536-24621537	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:144)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:24620600-24621800	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr9:24624800-24625200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr9:24648400-24650200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr9:24648600-24650000	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr9:24649600-24650000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr9:24649600-24650000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr9:24649600-24650000	ZNF genes & repeats	Pancreas	Pancrea
8	chr9:24659600-24660400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr9:24673600-24674000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr9:24681200-24682000	Enhancers	Fetal Brain Male	brain
11	chr9:24698600-24699400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr9:24698800-24699200	Active TSS	Adipose Nuclei	Adipose
13	chr9:24698800-24699200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
14	chr9:24698800-24699200	Active TSS	Ovary	ovary
15	chr9:24698800-24699400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr9:24698800-24699400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr9:24698800-24699400	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr9:24698800-24699400	Active TSS	Primary hematopoietic stem cells	blood
19	chr9:24698800-24699400	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr9:24698800-24699400	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr9:24698800-24699400	Active TSS	Fetal Muscle Leg	muscle
22	chr9:24698800-24699400	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr9:24698800-24699400	Active TSS	Dnd41	blood
24	chr9:24699000-24699200	Enhancers	Liver	Liver
25	chr9:24699000-24699400	Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr9:24699000-24699400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr9:24699000-24699400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr9:24699000-24699400	Active TSS	Brain Angular Gyrus	brain
29	chr9:24699000-24699400	Active TSS	Colon Smooth Muscle	Colon
30	chr9:24699000-24699400	Active TSS	Fetal Kidney	kidney
31	chr9:24699000-24699400	Active TSS	Stomach Smooth Muscle	stomach
32	chr9:24699000-24699400	Active TSS	HMEC	breast
33	chr9:24699200-24699400	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr9:24737400-24737800	Active TSS	Fetal Heart	heart
35	chr9:24737800-24738200	Enhancers	Fetal Muscle Trunk	muscle
36	chr9:24738000-24739000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr9:24738400-24739000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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