Variant report

Variant	nsv983219
Chromosome Location	chr11:26926565-26932064
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 196 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:196 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369218635	chr11:26926613-26926614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs563852622	chr11:26926642-26926643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145731974	chr11:26926664-26926665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536490849	chr11:26926672-26926673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376942023	chr11:26926677-26926678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552536856	chr11:26926698-26926699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74375167	chr11:26926705-26926706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554526971	chr11:26926734-26926735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74972514	chr11:26926954-26926955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368621935	chr11:26926983-26926984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573093829	chr11:26926985-26926986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141242559	chr11:26927041-26927042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145525482	chr11:26927046-26927047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548147958	chr11:26927059-26927060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111816767	chr11:26927067-26927068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537345108	chr11:26927083-26927084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535008026	chr11:26927176-26927177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs180888946	chr11:26927179-26927180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576632275	chr11:26927206-26927207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573429112	chr11:26927236-26927237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77273815	chr11:26927245-26927246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183755018	chr11:26927284-26927285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553345550	chr11:26927286-26927287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577647355	chr11:26927287-26927288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139633851	chr11:26927294-26927295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138080802	chr11:26927303-26927304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563485390	chr11:26927308-26927309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558692010	chr11:26927338-26927339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375526906	chr11:26927386-26927387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190577603	chr11:26927387-26927388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546477799	chr11:26927391-26927392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182299250	chr11:26927456-26927457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs149544657	chr11:26927476-26927477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144036091	chr11:26927482-26927483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112703792	chr11:26927511-26927512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs61599335	chr11:26927540-26927541	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs572221448	chr11:26927588-26927589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs547920598	chr11:26927632-26927633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543105250	chr11:26927689-26927690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs4923405	chr11:26927697-26927698	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs186917724	chr11:26927742-26927743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs147379034	chr11:26927744-26927745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs114486296	chr11:26927815-26927816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs534534251	chr11:26927816-26927817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs559423349	chr11:26927875-26927876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs533324082	chr11:26927893-26927894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs114896136	chr11:26928013-26928014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139423517	chr11:26928028-26928029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs117783001	chr11:26928042-26928043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145043972	chr11:26928158-26928159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
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
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Neuroticism	17667963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:26913800-26927200	Weak transcription	Esophagus	oesophagus
2	chr11:26923000-26927000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr11:26924200-26927200	Enhancers	Colon Smooth Muscle	Colon
4	chr11:26925000-26927200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr11:26925000-26927200	Enhancers	Fetal Lung	lung
6	chr11:26925200-26927200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr11:26925200-26927200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr11:26925200-26927400	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr11:26925200-26928000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr11:26925400-26927000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr11:26925400-26927000	Enhancers	Rectal Smooth Muscle	rectum
12	chr11:26925400-26927400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:26925600-26927200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr11:26925600-26927400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr11:26925800-26927000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:26926000-26927000	Weak transcription	Fetal Muscle Leg	muscle
17	chr11:26926000-26936400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr11:26926200-26927200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr11:26926200-26927200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr11:26926400-26926800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:26926400-26926800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr11:26926400-26931600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr11:26926800-26927200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:26926800-26927200	Enhancers	Stomach Smooth Muscle	stomach
25	chr11:26926800-26927400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:26926800-26927400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:26926800-26927400	Enhancers	Muscle Satellite Cultured Cells	--
28	chr11:26926800-26927400	Enhancers	Brain Cingulate Gyrus	brain
29	chr11:26927000-26927400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:26927000-26927400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:26927000-26927400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr11:26927000-26927400	Enhancers	Fetal Muscle Leg	muscle
33	chr11:26927000-26927400	Enhancers	NHDF-Ad	bronchial
34	chr11:26927000-26927400	Enhancers	NHEK	skin
35	chr11:26927000-26931800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr11:26927200-26927400	Enhancers	H1 Cell Line	embryonic stem cell
37	chr11:26927200-26927400	Enhancers	Esophagus	oesophagus
38	chr11:26927200-26930200	Weak transcription	Colon Smooth Muscle	Colon
39	chr11:26927200-26931800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr11:26927200-26932200	Weak transcription	Fetal Lung	lung
41	chr11:26927200-26936200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr11:26927400-26931800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr11:26928000-26932000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr11:26929400-26929600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:26930200-26933200	Enhancers	Colon Smooth Muscle	Colon
46	chr11:26931000-26933200	Enhancers	Liver	Liver
47	chr11:26931200-26933200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr11:26931600-26932800	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr11:26931800-26932000	Enhancers	Stomach Smooth Muscle	stomach
50	chr11:26931800-26932800	Enhancers	Rectal Smooth Muscle	rectum

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