Variant report

Variant	esv3431765
Chromosome Location	chr11:10463326-10465324
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:10459654..10465823-chr11:10469269..10473470,7	MCF-7	breast:
2	chr11:10464794..10466976-chr11:10476133..10477728,2	MCF-7	breast:
3	chr11:10451018..10453193-chr11:10462043..10463802,2	K562	blood:
4	chr11:10464906..10468864-chr11:10475520..10479355,5	K562	blood:

Variant related genes	Relation type
ENSG00000133805	chromatin interactions

Extended variants
information (count: 76 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs383090	chr11:10463339-10463340	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs576369102	chr11:10463378-10463379	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs374925	chr11:10463437-10463438	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs538941532	chr11:10463456-10463457	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs376715270	chr11:10463506-10463507	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs411783	chr11:10463515-10463516	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs554727978	chr11:10463548-10463549	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs60628971	chr11:10463568-10463569	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs572141959	chr11:10463596-10463597	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs543677768	chr11:10463640-10463641	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs150566292	chr11:10463643-10463644	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs560366836	chr11:10463665-10463666	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs574107223	chr11:10463711-10463712	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs12363993	chr11:10463713-10463714	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs562560229	chr11:10463743-10463744	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs531846495	chr11:10463792-10463793	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs551661319	chr11:10463822-10463823	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs149746153	chr11:10463844-10463845	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs527874647	chr11:10463856-10463857	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs532734375	chr11:10463929-10463930	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs186497926	chr11:10464013-10464014	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs190886713	chr11:10464023-10464024	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs11370587	chr11:10464043-10464044	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs397703044	chr11:10464058-10464059	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs61486947	chr11:10464064-10464065	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs373685228	chr11:10464087-10464088	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs182707979	chr11:10464089-10464090	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs527335980	chr11:10464214-10464215	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs558564696	chr11:10464222-10464223	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs368599261	chr11:10464226-10464227	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs188173886	chr11:10464254-10464255	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs370220099	chr11:10464295-10464296	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs559813005	chr11:10464297-10464298	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs10840414	chr11:10464320-10464321	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs368462636	chr11:10464368-10464369	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs573763754	chr11:10464382-10464383	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs542723420	chr11:10464397-10464398	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs556091350	chr11:10464399-10464400	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs12280618	chr11:10464407-10464408	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs545427741	chr11:10464438-10464439	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs565426575	chr11:10464442-10464443	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs528018656	chr11:10464491-10464492	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs541240392	chr11:10464506-10464507	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs561539256	chr11:10464545-10464546	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs191365505	chr11:10464564-10464565	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs11042806	chr11:10464582-10464583	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs569804935	chr11:10464583-10464584	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs532128812	chr11:10464595-10464596	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs9971562	chr11:10464659-10464660	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs117637042	chr11:10464761-10464762	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
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
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10457600-10471800	Weak transcription	NHDF-Ad	bronchial
2	chr11:10459400-10465600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr11:10460400-10463600	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr11:10460400-10464800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:10461400-10463600	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr11:10462400-10463400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:10462400-10463400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:10462600-10463400	Enhancers	NH-A	brain
9	chr11:10462600-10464000	Enhancers	Primary T cells from cord blood	blood
10	chr11:10462600-10464600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr11:10462600-10467400	Enhancers	Primary B cells from peripheral blood	blood
12	chr11:10462600-10467600	Enhancers	Fetal Thymus	thymus
13	chr11:10462800-10463800	Enhancers	HSMMtube	muscle
14	chr11:10462800-10464400	Enhancers	GM12878-XiMat	blood
15	chr11:10462800-10467600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr11:10463000-10463600	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr11:10463000-10463800	Enhancers	Primary hematopoietic stem cells	blood
18	chr11:10463000-10464600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr11:10463000-10467000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:10463000-10467000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:10463200-10463800	Enhancers	NHEK	skin
22	chr11:10463200-10464000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr11:10463200-10464000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr11:10463200-10464000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr11:10463200-10464000	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr11:10463200-10464000	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr11:10463200-10464000	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr11:10463200-10464000	Enhancers	Dnd41	blood
29	chr11:10463200-10464200	Enhancers	Primary T cells fromperipheralblood	blood
30	chr11:10463200-10464200	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr11:10463200-10465400	Enhancers	Primary B cells from cord blood	blood
32	chr11:10463400-10463600	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr11:10463400-10463800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr11:10463400-10464000	Enhancers	HepG2	liver
35	chr11:10463400-10464800	Enhancers	Thymus	Thymus
36	chr11:10463400-10465000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:10463400-10466400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr11:10463600-10464000	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr11:10463600-10464000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr11:10463600-10465400	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr11:10463800-10464000	Enhancers	Adipose Nuclei	Adipose
42	chr11:10463800-10464000	Enhancers	K562	blood
43	chr11:10463800-10465600	Weak transcription	Primary hematopoietic stem cells	blood
44	chr11:10464000-10465600	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr11:10464000-10465600	Weak transcription	Primary T cells from cord blood	blood
46	chr11:10464000-10466200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr11:10464000-10466200	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr11:10464000-10466200	Weak transcription	Dnd41	blood
49	chr11:10464000-10466400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr11:10464000-10466600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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