Variant report

Variant	nsv553357
Chromosome Location	chr11:6116038-6121432
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 205 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:205 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11040709	chr11:6116038-6116039	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs559681076	chr11:6116047-6116048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186746271	chr11:6116064-6116065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7940548	chr11:6116105-6116106	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs61877808	chr11:6116125-6116126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568444329	chr11:6116135-6116136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535657398	chr11:6116146-6116147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369547321	chr11:6116152-6116153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148237382	chr11:6116179-6116180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551200936	chr11:6116196-6116197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560052867	chr11:6116249-6116250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140351638	chr11:6116259-6116260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35888329	chr11:6116294-6116295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145484163	chr11:6116330-6116331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs137927201	chr11:6116349-6116350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555681521	chr11:6116383-6116384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1462982	chr11:6116418-6116419	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs541025065	chr11:6116441-6116442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191164777	chr11:6116454-6116455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7941058	chr11:6116489-6116490	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs574514025	chr11:6116493-6116494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543133540	chr11:6116498-6116499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544673605	chr11:6116555-6116556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559671870	chr11:6116593-6116594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527273135	chr11:6116627-6116628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185613448	chr11:6116723-6116724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528493926	chr11:6116724-6116725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190472403	chr11:6116725-6116726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182093008	chr11:6116763-6116764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551000022	chr11:6116768-6116769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7952121	chr11:6116776-6116777	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs142497920	chr11:6116792-6116793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7952132	chr11:6116804-6116805	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs74055120	chr11:6116829-6116830	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs11040713	chr11:6116843-6116844	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs116566280	chr11:6116844-6116845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185451686	chr11:6116847-6116848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115981964	chr11:6116859-6116860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs11040714	chr11:6116898-6116899	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs11040715	chr11:6116920-6116921	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs544835074	chr11:6116938-6116939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553437911	chr11:6116957-6116958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs11040717	chr11:6116974-6116975	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs533385326	chr11:6116989-6116990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs542316039	chr11:6117018-6117019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189012638	chr11:6117024-6117025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531220394	chr11:6117056-6117057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs181371166	chr11:6117064-6117065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563066903	chr11:6117077-6117078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549987027	chr11:6117078-6117079	Weak transcription Enhancers	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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:6112800-6117200	Weak transcription	Fetal Heart	heart
2	chr11:6115200-6116200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr11:6115200-6116800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr11:6116000-6116200	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr11:6116600-6118800	Enhancers	Placenta	Placenta
6	chr11:6117200-6118400	Enhancers	Fetal Heart	heart
7	chr11:6117400-6117600	Enhancers	Fetal Muscle Leg	muscle
8	chr11:6117400-6117800	Bivalent Enhancer	HUVEC	blood vessel
9	chr11:6117400-6118800	Enhancers	Left Ventricle	heart
10	chr11:6117600-6117800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:6117600-6118000	Enhancers	Right Ventricle	heart
12	chr11:6117600-6118600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:6118000-6118600	Enhancers	Psoas Muscle	Psoas
14	chr11:6118200-6118400	Enhancers	Fetal Muscle Leg	muscle
15	chr11:6120400-6122000	Enhancers	Primary T cells from cord blood	blood
16	chr11:6121000-6122000	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr11:6121200-6122000	Enhancers	Monocytes-CD14+_RO01746	blood

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