Variant report

Variant	esv3482170
Chromosome Location	chr9:25722809-25724867
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 99 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12686376	chr9:25722818-25722819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569407724	chr9:25722834-25722835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533996979	chr9:25722863-25722864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536946472	chr9:25722867-25722868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555373680	chr9:25722891-25722892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561382331	chr9:25722892-25722893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555467587	chr9:25722939-25722940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567285987	chr9:25722942-25722943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370936789	chr9:25722954-25722955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116169175	chr9:25722967-25722968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200347052	chr9:25722979-25722980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138977143	chr9:25722993-25722994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116918415	chr9:25723012-25723013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187844274	chr9:25723108-25723109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557129424	chr9:25723110-25723111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575149328	chr9:25723127-25723128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542537069	chr9:25723134-25723135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149400121	chr9:25723139-25723140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192612758	chr9:25723182-25723183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183761068	chr9:25723191-25723192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565273987	chr9:25723200-25723201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532646367	chr9:25723220-25723221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550846535	chr9:25723226-25723227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144770208	chr9:25723246-25723247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10967047	chr9:25723263-25723264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187724171	chr9:25723277-25723278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148143741	chr9:25723355-25723356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534650614	chr9:25723379-25723380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546667646	chr9:25723412-25723413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555931367	chr9:25723423-25723424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192829659	chr9:25723426-25723427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538730889	chr9:25723434-25723435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556851252	chr9:25723436-25723437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575115200	chr9:25723445-25723446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184773763	chr9:25723485-25723486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554474146	chr9:25723497-25723498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572900102	chr9:25723498-25723499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577576343	chr9:25723503-25723504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549742646	chr9:25723555-25723556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565282894	chr9:25723565-25723566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376347742	chr9:25723582-25723583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368865662	chr9:25723629-25723630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs397763089	chr9:25723649-25723650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7034534	chr9:25723678-25723679	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs7034426	chr9:25723719-25723720	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs530345705	chr9:25723801-25723802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548894721	chr9:25723803-25723804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11457376	chr9:25723808-25723809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562441977	chr9:25723809-25723810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs397939643	chr9:25723815-25723816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:119)

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
Cancer	22183965	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
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
Esophageal adenocarcinoma	18519675	CNVD
Pancreatic cancer	21811587	CNVD
Bipolar disorder	19114987	CNVD
Barrett''s syndrome	19417022	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
polycythaemia	22829968	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21364760	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:25716800-25724400	Weak transcription	Fetal Kidney	kidney
2	chr9:25721600-25724000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr9:25721800-25724000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr9:25721800-25724200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr9:25721800-25724400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr9:25724000-25724600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr9:25724000-25724600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr9:25724200-25724600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr9:25724200-25724600	Enhancers	Hela-S3	cervix
10	chr9:25724200-25724600	Active TSS	HMEC	breast
11	chr9:25724200-25724600	Active TSS	NHEK	skin
12	chr9:25724200-25725600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr9:25724400-25724600	Enhancers	Fetal Kidney	kidney
14	chr9:25724400-25725000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr9:25724600-25727200	Weak transcription	Fetal Kidney	kidney

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