Variant report

Variant	esv3482524
Chromosome Location	chr9:94350583-94352422
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:94282329..94284526-chr9:94349227..94351684,2	K562	blood:
2	chr9:94186279..94188747-chr9:94348590..94350672,2	K562	blood:
3	chr9:94345770..94347286-chr9:94349788..94351847,2	K562	blood:

Variant related genes	Relation type
ENSG00000233081	chromatin interactions

Extended variants
information (count: 84 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550468336	chr9:94350589-94350590	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs188604431	chr9:94350661-94350662	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs201260730	chr9:94350668-94350669	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs140341693	chr9:94350672-94350673	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs398073526	chr9:94350673-94350674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539441330	chr9:94350721-94350722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551353094	chr9:94350734-94350735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574467658	chr9:94350735-94350736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531554705	chr9:94350736-94350737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9409436	chr9:94350737-94350738	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs533934215	chr9:94350774-94350775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139827201	chr9:94350791-94350792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181359750	chr9:94350794-94350795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185777566	chr9:94350796-94350797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10992000	chr9:94350812-94350813	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs145360465	chr9:94350891-94350892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577475796	chr9:94350932-94350933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544893927	chr9:94350940-94350941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538169782	chr9:94350948-94350949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560164078	chr9:94350995-94350996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572330309	chr9:94351022-94351023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543495180	chr9:94351029-94351030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563481923	chr9:94351093-94351094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs75266010	chr9:94351146-94351147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10992001	chr9:94351206-94351207	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs550348601	chr9:94351223-94351224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140977306	chr9:94351284-94351285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115228426	chr9:94351319-94351320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs80264079	chr9:94351324-94351325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4744066	chr9:94351366-94351367	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs540508320	chr9:94351374-94351375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188159611	chr9:94351382-94351383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542325432	chr9:94351390-94351391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561972506	chr9:94351397-94351398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116712579	chr9:94351410-94351411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs555981326	chr9:94351447-94351448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs4744067	chr9:94351458-94351459	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs538577983	chr9:94351469-94351470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553636980	chr9:94351498-94351499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572422182	chr9:94351518-94351519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542630269	chr9:94351568-94351569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs180950564	chr9:94351569-94351570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544932595	chr9:94351626-94351627	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs144995171	chr9:94351627-94351628	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs543922073	chr9:94351667-94351668	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs532010429	chr9:94351676-94351677	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs150512136	chr9:94351677-94351678	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs370181039	chr9:94351777-94351778	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs565523936	chr9:94351827-94351828	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs375381117	chr9:94351835-94351836	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Mental retardation	21693067	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94347800-94351200	Weak transcription	Spleen	Spleen
2	chr9:94349200-94351400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr9:94351000-94352200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr9:94351200-94351800	Enhancers	Left Ventricle	heart
5	chr9:94351200-94352000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr9:94351200-94352000	Enhancers	Pancreas	Pancrea
7	chr9:94351200-94352200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr9:94351200-94352200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr9:94351200-94352200	Enhancers	Ovary	ovary
10	chr9:94351200-94352200	Enhancers	Spleen	Spleen
11	chr9:94351200-94352200	Enhancers	GM12878-XiMat	blood
12	chr9:94351200-94352400	Enhancers	Brain Germinal Matrix	brain
13	chr9:94351200-94352800	Enhancers	Fetal Stomach	stomach
14	chr9:94351400-94351600	Enhancers	Stomach Smooth Muscle	stomach
15	chr9:94351400-94351800	Enhancers	Fetal Lung	lung
16	chr9:94351400-94352000	Enhancers	Fetal Muscle Leg	muscle
17	chr9:94351400-94352200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr9:94351400-94352200	Enhancers	Fetal Thymus	thymus
19	chr9:94351600-94352000	Enhancers	Brain Substantia Nigra	brain
20	chr9:94351600-94352000	Enhancers	Esophagus	oesophagus
21	chr9:94351600-94352000	Enhancers	Fetal Brain Female	brain
22	chr9:94351600-94352000	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr9:94351600-94352200	Enhancers	Colon Smooth Muscle	Colon
24	chr9:94351600-94352400	Enhancers	Fetal Muscle Trunk	muscle
25	chr9:94351800-94352000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
26	chr9:94351800-94352200	Enhancers	Brain Hippocampus Middle	brain
27	chr9:94351800-94352200	Enhancers	Right Atrium	heart
28	chr9:94352000-94352200	Enhancers	Stomach Smooth Muscle	stomach
29	chr9:94352000-94365800	Weak transcription	Pancreas	Pancrea
30	chr9:94352200-94354200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr9:94352200-94354400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr9:94352400-94353400	Weak transcription	Fetal Muscle Trunk	muscle

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