Variant report

Variant	nsv516403
Chromosome Location	chr11:15226187-15228054
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1945627	chr11:15226187-15226188	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs374456796	chr11:15226215-15226216	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1792550	chr11:15226276-15226277	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs572054723	chr11:15226288-15226289	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545866558	chr11:15226300-15226301	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs193071476	chr11:15226327-15226328	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531906988	chr11:15226362-15226363	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs76544578	chr11:15226370-15226371	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562222832	chr11:15226390-15226391	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs74981630	chr11:15226391-15226392	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553372995	chr11:15226406-15226407	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375585017	chr11:15226407-15226408	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184675798	chr11:15226428-15226429	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs533271907	chr11:15226429-15226430	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551436361	chr11:15226459-15226460	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145881023	chr11:15226464-15226465	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs5004266	chr11:15226472-15226473	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs556082944	chr11:15226481-15226482	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs36037188	chr11:15226501-15226502	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148585442	chr11:15226503-15226504	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535699069	chr11:15226509-15226510	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189136118	chr11:15226543-15226544	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555960778	chr11:15226557-15226558	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571978609	chr11:15226584-15226585	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181163795	chr11:15226589-15226590	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557865148	chr11:15226590-15226591	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185719646	chr11:15226603-15226604	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544020395	chr11:15226715-15226716	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs142083914	chr11:15226726-15226727	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574257045	chr11:15226727-15226728	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555300524	chr11:15226747-15226748	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs375971651	chr11:15226798-15226799	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541668436	chr11:15226832-15226833	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559501073	chr11:15226868-15226869	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575391677	chr11:15226944-15226945	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543942103	chr11:15226945-15226946	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116517147	chr11:15226998-15226999	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115780150	chr11:15226999-15227000	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557441306	chr11:15227017-15227018	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs151146276	chr11:15227032-15227033	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531450831	chr11:15227065-15227066	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549714846	chr11:15227105-15227106	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs141077975	chr11:15227120-15227121	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189299862	chr11:15227134-15227135	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs146960629	chr11:15227143-15227144	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs181054537	chr11:15227186-15227187	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs116845195	chr11:15227200-15227201	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs187276094	chr11:15227210-15227211	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372135494	chr11:15227222-15227223	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537095497	chr11:15227248-15227249	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Myelofibrosis	22110671	CNVD
Cancer	24489367	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Neuroblastoma	19435921	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21858162	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:15218600-15229400	Weak transcription	Gastric	stomach
2	chr11:15219200-15234600	Weak transcription	Fetal Intestine Small	intestine
3	chr11:15221600-15227600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:15221800-15226800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr11:15222200-15244600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr11:15222600-15230000	Weak transcription	Fetal Brain Male	brain
7	chr11:15224000-15226800	Enhancers	Liver	Liver
8	chr11:15225600-15226800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:15226000-15226200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr11:15226000-15227000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr11:15226800-15227200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr11:15226800-15227200	Weak transcription	Liver	Liver
13	chr11:15226800-15231600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr11:15227000-15228400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:15227200-15227600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:15227200-15228800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr11:15227200-15230800	Enhancers	Liver	Liver
18	chr11:15227600-15227800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:15227600-15230000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:15227800-15229000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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