Variant report

Variant	esv20293
Chromosome Location	chr11:6115326-6117545
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7114866	chr11:6115338-6115339	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs529707878	chr11:6115398-6115399	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs573220352	chr11:6115419-6115420	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs540535815	chr11:6115431-6115432	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs143189694	chr11:6115432-6115433	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs541774596	chr11:6115463-6115464	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs10839476	chr11:6115474-6115475	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs562628784	chr11:6115493-6115494	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs563326411	chr11:6115506-6115507	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs10839477	chr11:6115513-6115514	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs551399043	chr11:6115514-6115515	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs10839478	chr11:6115519-6115520	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs534942000	chr11:6115525-6115526	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs10839479	chr11:6115661-6115662	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs568280552	chr11:6115671-6115672	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs536068744	chr11:6115673-6115674	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs557155339	chr11:6115679-6115680	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs535705047	chr11:6115743-6115744	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs533949941	chr11:6115764-6115765	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs539445868	chr11:6115791-6115792	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs547435720	chr11:6115818-6115819	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs558135859	chr11:6115849-6115850	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs191841315	chr11:6115857-6115858	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs75265080	chr11:6115861-6115862	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs561982382	chr11:6115880-6115881	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs373477615	chr11:6115892-6115893	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs573730356	chr11:6115925-6115926	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs544427563	chr11:6115926-6115927	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs562436468	chr11:6115931-6115932	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs183915255	chr11:6115932-6115933	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs536347137	chr11:6116035-6116036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11040709	chr11:6116038-6116039	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs559681076	chr11:6116047-6116048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186746271	chr11:6116064-6116065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7940548	chr11:6116105-6116106	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs61877808	chr11:6116125-6116126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568444329	chr11:6116135-6116136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535657398	chr11:6116146-6116147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369547321	chr11:6116152-6116153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148237382	chr11:6116179-6116180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551200936	chr11:6116196-6116197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560052867	chr11:6116249-6116250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140351638	chr11:6116259-6116260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35888329	chr11:6116294-6116295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145484163	chr11:6116330-6116331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs137927201	chr11:6116349-6116350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555681521	chr11:6116383-6116384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1462982	chr11:6116418-6116419	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs541025065	chr11:6116441-6116442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191164777	chr11:6116454-6116455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Barrett''s syndrome	19417022	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

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:6112800-6117200	Weak transcription	Fetal Heart	heart
2	chr11:6115000-6116000	Enhancers	Primary T cells from cord blood	blood
3	chr11:6115200-6116000	Enhancers	HUVEC	blood vessel
4	chr11:6115200-6116000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr11:6115200-6116200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr11:6115200-6116800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr11:6115400-6115800	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr11:6115400-6115800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:6116000-6116200	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr11:6116600-6118800	Enhancers	Placenta	Placenta
11	chr11:6117200-6118400	Enhancers	Fetal Heart	heart
12	chr11:6117400-6117600	Enhancers	Fetal Muscle Leg	muscle
13	chr11:6117400-6117800	Bivalent Enhancer	HUVEC	blood vessel
14	chr11:6117400-6118800	Enhancers	Left Ventricle	heart

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