Variant report

Variant	nsv892799
Chromosome Location	chr9:24462860-24495241
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 884 )
Associated
traits (count: 144 )

Variant overlapped rSNPs/rCNVs (count:884 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530916604	chr9:24462939-24462940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs551003536	chr9:24462960-24462961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574578196	chr9:24462982-24462983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs377045208	chr9:24462985-24462986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs200423535	chr9:24462986-24462987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552734642	chr9:24463010-24463011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566455862	chr9:24463039-24463040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181422881	chr9:24463044-24463045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555078410	chr9:24463047-24463048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185562946	chr9:24463105-24463106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540526926	chr9:24463107-24463108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191241651	chr9:24463136-24463137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555364263	chr9:24463149-24463150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs116569408	chr9:24463172-24463173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577800281	chr9:24463194-24463195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546450303	chr9:24463211-24463212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559960783	chr9:24463237-24463238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs7027869	chr9:24463254-24463255	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs542466030	chr9:24463293-24463294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182622372	chr9:24463314-24463315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530977665	chr9:24463328-24463329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550687859	chr9:24463334-24463335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143275264	chr9:24463376-24463377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533230944	chr9:24463382-24463383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143027000	chr9:24463392-24463393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566294997	chr9:24463393-24463394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372727829	chr9:24463402-24463403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs7028117	chr9:24463420-24463421	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs187841539	chr9:24463423-24463424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544335936	chr9:24463462-24463463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs146133534	chr9:24463491-24463492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs116273199	chr9:24463524-24463525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs375187927	chr9:24463535-24463536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs77836883	chr9:24463585-24463586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs140543483	chr9:24463631-24463632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577836977	chr9:24463636-24463637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533839706	chr9:24463685-24463686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553612044	chr9:24463688-24463689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573425888	chr9:24463702-24463703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561915888	chr9:24463777-24463778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192132016	chr9:24463789-24463790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183304888	chr9:24463795-24463796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs150495320	chr9:24463866-24463867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544621804	chr9:24463876-24463877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs138541648	chr9:24463883-24463884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564085249	chr9:24463890-24463891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144055228	chr9:24463952-24463953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369904751	chr9:24463967-24463968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187624929	chr9:24463969-24463970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs546643709	chr9:24463985-24463986	Weak transcription 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
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:24462400-24463200	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr9:24462800-24464000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr9:24463000-24464400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr9:24463200-24464600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr9:24464000-24464400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr9:24464200-24466200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr9:24464400-24464800	Enhancers	NH-A	brain
8	chr9:24464400-24465000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr9:24464400-24465000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr9:24464400-24465200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr9:24464400-24466000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr9:24464600-24465000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr9:24464600-24465000	Enhancers	HUVEC	blood vessel
14	chr9:24464600-24466000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr9:24464600-24466000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr9:24464600-24466200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr9:24464600-24466400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr9:24464800-24466400	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr9:24465000-24465800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr9:24465000-24465800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr9:24465600-24466000	Enhancers	Adipose Nuclei	Adipose
22	chr9:24465800-24466000	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr9:24465800-24466600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr9:24478200-24478400	Enhancers	H1 Cell Line	embryonic stem cell
25	chr9:24478200-24478400	Enhancers	Fetal Muscle Leg	muscle
26	chr9:24478200-24480000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr9:24478200-24480200	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr9:24478200-24480200	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr9:24478200-24480400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr9:24478400-24479400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr9:24478400-24479400	Weak transcription	Fetal Muscle Leg	muscle
32	chr9:24478600-24481400	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr9:24478800-24479400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr9:24479000-24479200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr9:24479000-24479400	Enhancers	Primary hematopoietic stem cells	blood
36	chr9:24479000-24480000	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr9:24479000-24480000	Enhancers	Adipose Nuclei	Adipose
38	chr9:24479200-24479400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr9:24479200-24479600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr9:24479200-24479600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr9:24479200-24479800	Enhancers	Fetal Kidney	kidney
42	chr9:24479200-24480200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr9:24479200-24480800	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr9:24479400-24479600	Enhancers	H1 Cell Line	embryonic stem cell
45	chr9:24479400-24479800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr9:24479400-24479800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr9:24479400-24479800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr9:24479400-24479800	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr9:24479400-24480000	Enhancers	Fetal Muscle Leg	muscle
50	chr9:24479400-24480200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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