Variant report

Variant	esv3402084
Chromosome Location	chr9:94349581-94351829
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	chr9:94345770..94347286-chr9:94349788..94351847,2	K562	blood:
3	chr9:94186279..94188747-chr9:94348590..94350672,2	K562	blood:

Variant related genes	Relation type
ENSG00000233081	chromatin interactions

Extended variants
information (count: 93 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534093242	chr9:94349616-94349617	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs540703626	chr9:94349630-94349631	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs567902009	chr9:94349648-94349649	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs28644770	chr9:94349714-94349715	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs556960779	chr9:94349755-94349756	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs185396770	chr9:94349764-94349765	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs371343752	chr9:94349779-94349780	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs545944384	chr9:94349799-94349800	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs35665194	chr9:94349821-94349822	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs12551755	chr9:94349822-94349823	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs376248397	chr9:94349840-94349841	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs540391870	chr9:94349853-94349854	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs190649029	chr9:94349872-94349873	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs114116752	chr9:94349895-94349896	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs144326599	chr9:94349914-94349915	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs562588985	chr9:94349923-94349924	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs148780068	chr9:94349927-94349928	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs551477600	chr9:94349931-94349932	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs554511804	chr9:94349933-94349934	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs534447850	chr9:94349960-94349961	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs527884188	chr9:94349978-94349979	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs549515413	chr9:94349990-94349991	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs567752968	chr9:94350001-94350002	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs538578784	chr9:94350039-94350040	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs9409617	chr9:94350040-94350041	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs375939407	chr9:94350051-94350052	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs144920797	chr9:94350160-94350161	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs192895512	chr9:94350162-94350163	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs73515039	chr9:94350174-94350175	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs540060445	chr9:94350188-94350189	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs555577172	chr9:94350203-94350204	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs375176961	chr9:94350278-94350279	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs147536898	chr9:94350370-94350371	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs544521758	chr9:94350379-94350380	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs562425521	chr9:94350404-94350405	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs533178045	chr9:94350421-94350422	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs544955596	chr9:94350427-94350428	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs560223026	chr9:94350428-94350429	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs527827073	chr9:94350460-94350461	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs566634349	chr9:94350516-94350517	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs549210266	chr9:94350524-94350525	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs34178496	chr9:94350530-94350531	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs567879341	chr9:94350558-94350559	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs185440528	chr9:94350561-94350562	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs550468336	chr9:94350589-94350590	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs188604431	chr9:94350661-94350662	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs201260730	chr9:94350668-94350669	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs140341693	chr9:94350672-94350673	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs398073526	chr9:94350673-94350674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539441330	chr9:94350721-94350722	Weak transcription	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:27 , 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

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