Variant report

Variant	esv3509392
Chromosome Location	chr11:9524576-9527874
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:9526683..9529040-chr11:9771305..9773861,2	K562	blood:
2	chr11:9515094..9518032-chr11:9527363..9529994,2	K562	blood:
3	chr11:9480912..9484218-chr11:9526454..9530428,5	K562	blood:

Variant related genes	Relation type
ENSG00000166478	chromatin interactions
ENSG00000268403	chromatin interactions

Extended variants
information (count: 157 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:157 , 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	rs181352995	chr11:9524622-9524623	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547820806	chr11:9524630-9524631	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554660270	chr11:9524659-9524660	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7103339	chr11:9524700-9524701	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551010375	chr11:9524703-9524704	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs116084981	chr11:9524707-9524708	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368679542	chr11:9524715-9524716	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539677565	chr11:9524722-9524723	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547197435	chr11:9524778-9524779	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200265493	chr11:9524789-9524790	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs200263675	chr11:9524790-9524791	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540505225	chr11:9524791-9524792	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567020048	chr11:9524792-9524793	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs536854458	chr11:9524823-9524824	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535945441	chr11:9524858-9524859	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557170269	chr11:9524859-9524860	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575553578	chr11:9524950-9524951	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531094523	chr11:9524982-9524983	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368524258	chr11:9525008-9525009	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376756180	chr11:9525049-9525050	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs145302486	chr11:9525075-9525076	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs113864408	chr11:9525099-9525100	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577051541	chr11:9525148-9525149	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545639568	chr11:9525161-9525162	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577055928	chr11:9525210-9525211	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546114492	chr11:9525229-9525230	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs79330740	chr11:9525230-9525231	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs149174415	chr11:9525239-9525240	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs142322459	chr11:9525275-9525276	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs146801513	chr11:9525280-9525281	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs71476833	chr11:9525282-9525283	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530438706	chr11:9525283-9525284	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140500698	chr11:9525293-9525294	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs145617210	chr11:9525325-9525326	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533676813	chr11:9525334-9525335	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547258935	chr11:9525336-9525337	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567081233	chr11:9525355-9525356	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs552670096	chr11:9525392-9525393	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185818055	chr11:9525398-9525399	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569300441	chr11:9525413-9525414	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537887766	chr11:9525425-9525426	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs373587278	chr11:9525440-9525441	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541909496	chr11:9525446-9525447	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs190182249	chr11:9525511-9525512	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs397849004	chr11:9525523-9525524	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs35371465	chr11:9525524-9525525	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs71476834	chr11:9525533-9525534	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs570695119	chr11:9525561-9525562	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs34712448	chr11:9525562-9525563	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530270427	chr11:9525567-9525568	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
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
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:210 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9484600-9544800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:9491400-9525400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr11:9491400-9551600	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr11:9492000-9527200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr11:9492200-9525400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:9492800-9527800	Strong transcription	Fetal Stomach	stomach
7	chr11:9495600-9525400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:9496600-9528200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:9499200-9526000	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr11:9501800-9534000	Weak transcription	Psoas Muscle	Psoas
11	chr11:9505200-9525200	Strong transcription	Placenta	Placenta
12	chr11:9506000-9525200	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr11:9506800-9525400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:9506800-9525400	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr11:9507200-9525400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:9507200-9525400	Strong transcription	Adipose Nuclei	Adipose
17	chr11:9508800-9525000	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr11:9509200-9525200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr11:9509200-9525200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:9509200-9525400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:9509200-9525400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr11:9509200-9525400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr11:9511600-9525000	Strong transcription	Ovary	ovary
24	chr11:9511600-9527800	Weak transcription	Hela-S3	cervix
25	chr11:9511600-9528200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr11:9511600-9528400	Weak transcription	NHLF	lung
27	chr11:9512200-9525200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:9512200-9525400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:9514400-9525400	Strong transcription	Primary T cells from cord blood	blood
30	chr11:9515200-9525000	Strong transcription	Fetal Muscle Trunk	muscle
31	chr11:9515400-9525400	Strong transcription	Fetal Thymus	thymus
32	chr11:9515400-9525800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr11:9515600-9525200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:9515600-9525400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:9515600-9525400	Strong transcription	Stomach Smooth Muscle	stomach
36	chr11:9515600-9525400	Strong transcription	Thymus	Thymus
37	chr11:9515800-9525400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:9515800-9525400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:9515800-9525800	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr11:9516000-9525400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr11:9517200-9525200	Strong transcription	Spleen	Spleen
42	chr11:9517400-9525400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr11:9518200-9525200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr11:9518600-9530000	Weak transcription	NHEK	skin
45	chr11:9518800-9534000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr11:9519200-9532000	Weak transcription	NHDF-Ad	bronchial
47	chr11:9519200-9534200	Weak transcription	Fetal Brain Female	brain
48	chr11:9519600-9525800	Strong transcription	Brain Germinal Matrix	brain
49	chr11:9520200-9524600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr11:9520600-9525200	Strong transcription	NH-A	brain

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