Variant report

Variant	esv3420035
Chromosome Location	chr9:22595194-22597882
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 116 )
Associated
traits (count: 150 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532957279	chr9:22595211-22595212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73650117	chr9:22595234-22595235	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs73650118	chr9:22595279-22595280	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs543256639	chr9:22595281-22595282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs62573469	chr9:22595332-22595333	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs564382732	chr9:22595335-22595336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533572200	chr9:22595340-22595341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540374779	chr9:22595368-22595369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12000250	chr9:22595381-22595382	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs62573470	chr9:22595482-22595483	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs12004172	chr9:22595546-22595547	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs150364313	chr9:22595574-22595575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530866885	chr9:22595584-22595585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531913868	chr9:22595608-22595609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370561791	chr9:22595624-22595625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs72148707	chr9:22595625-22595626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532968313	chr9:22595638-22595639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs34989062	chr9:22595639-22595640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs62573471	chr9:22595653-22595654	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs62573472	chr9:22595657-22595658	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs551908110	chr9:22595666-22595667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs10757344	chr9:22595668-22595669	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs554407853	chr9:22595677-22595678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572670317	chr9:22595684-22595685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542969440	chr9:22595686-22595687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143843346	chr9:22595687-22595688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554980334	chr9:22595688-22595689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574886808	chr9:22595700-22595701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs180920259	chr9:22595766-22595767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369529418	chr9:22595767-22595768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185487409	chr9:22595796-22595797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs578117483	chr9:22595801-22595802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540788100	chr9:22595831-22595832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190414071	chr9:22595859-22595860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576339832	chr9:22595883-22595884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574111145	chr9:22595889-22595890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543460923	chr9:22595894-22595895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543133281	chr9:22595898-22595899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571785537	chr9:22595911-22595912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531690433	chr9:22595971-22595972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138086270	chr9:22596004-22596005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs564369223	chr9:22596007-22596008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568582928	chr9:22596030-22596031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs546799591	chr9:22596085-22596086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs4403495	chr9:22596091-22596092	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs181791071	chr9:22596097-22596098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548667364	chr9:22596119-22596120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs186966419	chr9:22596134-22596135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs375865521	chr9:22596142-22596143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs532479901	chr9:22596151-22596152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:150)

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
Breast cancer	21858162	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
Glioblastoma multiforme	21569311	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
Glioma	20126413	CNVD
Melanoma	17363583	CNVD
Glioblastoma multiforme	19115005	CNVD
Glioblastoma multiforme	21138945	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Cancer	20581869	CNVD
Oral cancer	22144094	CNVD
Barrett''s syndrome	19417022	CNVD
Breast cancer	17142309	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	21364760	CNVD
Acute myeloid leukemia	17237825	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:22590800-22595800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr9:22592200-22595800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr9:22592800-22595800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr9:22593400-22596200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr9:22593400-22599000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr9:22595600-22596600	Enhancers	Adipose Nuclei	Adipose
7	chr9:22595800-22596000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr9:22595800-22596400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr9:22595800-22597000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr9:22596000-22618000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr9:22596200-22597400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr9:22596400-22601200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr9:22597400-22597800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr9:22597800-22600000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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