Variant report

Variant	esv2508182
Chromosome Location	chr9:26689086-26690489
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527997956	chr9:26689148-26689149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs180830602	chr9:26689151-26689152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186205443	chr9:26689163-26689164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150044285	chr9:26689167-26689168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538471497	chr9:26689172-26689173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552060767	chr9:26689203-26689204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145323702	chr9:26689229-26689230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs13295668	chr9:26689235-26689236	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs116528291	chr9:26689249-26689250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566448605	chr9:26689257-26689258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534097962	chr9:26689365-26689366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191176336	chr9:26689426-26689427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs13295730	chr9:26689428-26689429	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs13295742	chr9:26689442-26689443	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs568409052	chr9:26689485-26689486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554143855	chr9:26689515-26689516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181572416	chr9:26689516-26689517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574862645	chr9:26689520-26689521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550501280	chr9:26689547-26689548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553763475	chr9:26689558-26689559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572066154	chr9:26689562-26689563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546088395	chr9:26689579-26689580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs386733852	chr9:26689666-26689667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34830378	chr9:26689668-26689669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190317680	chr9:26689738-26689739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553748924	chr9:26689772-26689773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374745018	chr9:26689821-26689822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570456943	chr9:26689934-26689935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543980020	chr9:26689964-26689965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562471833	chr9:26689996-26689997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148434238	chr9:26690013-26690014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182959257	chr9:26690032-26690033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572312007	chr9:26690035-26690036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187604372	chr9:26690154-26690155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78248530	chr9:26690182-26690183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570718178	chr9:26690202-26690203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537681191	chr9:26690204-26690205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs13292180	chr9:26690253-26690254	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs144025533	chr9:26690258-26690259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146426670	chr9:26690266-26690267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540172311	chr9:26690290-26690291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572152622	chr9:26690318-26690319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539438057	chr9:26690324-26690325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191022199	chr9:26690335-26690336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573581784	chr9:26690349-26690350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1434492	chr9:26690350-26690351	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs553682866	chr9:26690351-26690352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182480858	chr9:26690397-26690398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140754115	chr9:26690413-26690414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144604028	chr9:26690446-26690447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

Disease	PMID	Source
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Medulloblastoma	21979893	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
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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Hodgkin''s lymphoma	18179710	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
Pancreatic cancer	21811587	CNVD
Barrett''s syndrome	19417022	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
polycythaemia	22829968	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	21525872	CNVD
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:26687800-26694200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:26689200-26689400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr9:26689200-26689400	Enhancers	Cortex derived primary cultured neurospheres	brain

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