Variant report

Variant	esv2757328
Chromosome Location	chr9:24467996-24528103
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1486 )
Associated
traits (count: 145 )

Variant overlapped rSNPs/rCNVs (count:1486 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566679221	chr9:24478220-24478221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529443825	chr9:24478276-24478277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566765391	chr9:24478319-24478320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549307889	chr9:24478342-24478343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76897494	chr9:24478351-24478352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143829176	chr9:24478400-24478401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558096490	chr9:24478411-24478412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147232443	chr9:24478422-24478423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534251130	chr9:24478442-24478443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566298543	chr9:24478455-24478456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573919854	chr9:24478456-24478457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542826975	chr9:24478495-24478496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370884424	chr9:24478496-24478497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534899551	chr9:24478528-24478529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1985995	chr9:24478577-24478578	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs368924052	chr9:24478610-24478611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73652198	chr9:24478637-24478638	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs111894090	chr9:24478697-24478698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73652199	chr9:24478727-24478728	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs560640565	chr9:24478756-24478757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184144016	chr9:24478763-24478764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554594290	chr9:24478829-24478830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375433760	chr9:24478848-24478849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531990659	chr9:24478897-24478898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551488369	chr9:24478904-24478905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116028859	chr9:24478922-24478923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575737009	chr9:24478939-24478940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10757476	chr9:24479050-24479051	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs536694731	chr9:24479068-24479069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554338557	chr9:24479097-24479098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565353593	chr9:24479123-24479124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577352454	chr9:24479181-24479182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536470373	chr9:24479204-24479205	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs4260963	chr9:24479207-24479208	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs182092982	chr9:24479226-24479227	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs574679328	chr9:24479240-24479241	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs558573733	chr9:24479319-24479320	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs375959326	chr9:24479331-24479332	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs185987680	chr9:24479335-24479336	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs541391311	chr9:24479393-24479394	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs540654743	chr9:24479396-24479397	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs573143351	chr9:24479399-24479400	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs190447322	chr9:24479477-24479478	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs529714341	chr9:24479483-24479484	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs369036360	chr9:24479490-24479491	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs181429446	chr9:24479546-24479547	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs185565944	chr9:24479558-24479559	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs552090302	chr9:24479601-24479602	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs560086857	chr9:24479623-24479624	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs565420935	chr9:24479624-24479625	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:145)

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
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:186 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:24478200-24478400	Enhancers	H1 Cell Line	embryonic stem cell
2	chr9:24478200-24478400	Enhancers	Fetal Muscle Leg	muscle
3	chr9:24478200-24480000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr9:24478200-24480200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr9:24478200-24480200	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr9:24478200-24480400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr9:24478400-24479400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr9:24478400-24479400	Weak transcription	Fetal Muscle Leg	muscle
9	chr9:24478600-24481400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr9:24478800-24479400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr9:24479000-24479200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr9:24479000-24479400	Enhancers	Primary hematopoietic stem cells	blood
13	chr9:24479000-24480000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr9:24479000-24480000	Enhancers	Adipose Nuclei	Adipose
15	chr9:24479200-24479400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr9:24479200-24479600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr9:24479200-24479600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr9:24479200-24479800	Enhancers	Fetal Kidney	kidney
19	chr9:24479200-24480200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr9:24479200-24480800	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr9:24479400-24479600	Enhancers	H1 Cell Line	embryonic stem cell
22	chr9:24479400-24479800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr9:24479400-24479800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr9:24479400-24479800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr9:24479400-24479800	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr9:24479400-24480000	Enhancers	Fetal Muscle Leg	muscle
27	chr9:24479400-24480200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr9:24479600-24480800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr9:24479800-24480000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr9:24479800-24480000	Enhancers	Primary hematopoietic stem cells	blood
31	chr9:24480000-24483600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr9:24480000-24487000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr9:24480000-24487400	Weak transcription	Fetal Muscle Leg	muscle
34	chr9:24480200-24482600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr9:24480200-24484200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr9:24480200-24484200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr9:24480400-24480800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr9:24480800-24481000	Enhancers	H1 Cell Line	embryonic stem cell
39	chr9:24480800-24481000	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr9:24480800-24483200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr9:24481000-24483800	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr9:24481400-24483800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr9:24482600-24483000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr9:24483000-24485400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr9:24483600-24484600	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr9:24483800-24484800	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr9:24483800-24485600	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr9:24484200-24484400	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr9:24484200-24484600	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr9:24484400-24486400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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