Variant report

Variant	nsv8778
Chromosome Location	chr11:4532908-4534312
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:4531179..4533009-chr11:4535130..4536667,2	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147545178	chr11:4532908-4532909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs376715573	chr11:4532971-4532972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576930922	chr11:4532989-4532990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534639917	chr11:4532994-4532995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1430402	chr11:4533008-4533009	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs574690124	chr11:4533018-4533019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140210334	chr11:4533041-4533042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563346845	chr11:4533073-4533074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76340551	chr11:4533112-4533113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10500604	chr11:4533115-4533116	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs2566238	chr11:4533118-4533119	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs564900563	chr11:4533135-4533136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532355529	chr11:4533188-4533189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113044076	chr11:4533238-4533239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547413701	chr11:4533239-4533240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2566237	chr11:4533246-4533247	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs148707096	chr11:4533247-4533248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543159738	chr11:4533257-4533258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187949617	chr11:4533259-4533260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2566236	chr11:4533264-4533265	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs552286929	chr11:4533272-4533273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535735853	chr11:4533312-4533313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142371022	chr11:4533321-4533322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74054045	chr11:4533336-4533337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534598184	chr11:4533371-4533372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552735227	chr11:4533375-4533376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561773644	chr11:4533385-4533386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192620107	chr11:4533392-4533393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185194349	chr11:4533416-4533417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2709147	chr11:4533417-4533418	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs556850223	chr11:4533437-4533438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540591616	chr11:4533449-4533450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575364341	chr11:4533459-4533460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190174916	chr11:4533521-4533522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368371385	chr11:4533533-4533534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs386750005	chr11:4533534-4533535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs151273028	chr11:4533536-4533537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73437886	chr11:4533547-4533548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140354487	chr11:4533553-4533554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559630212	chr11:4533563-4533564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181124839	chr11:4533564-4533565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373006688	chr11:4533575-4533576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184785433	chr11:4533588-4533589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200700192	chr11:4533597-4533598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372008824	chr11:4533636-4533637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574626252	chr11:4533649-4533650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79589414	chr11:4533657-4533658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552852243	chr11:4533662-4533663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570553031	chr11:4533694-4533695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113404255	chr11:4533723-4533724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Esophageal adenocarcinoma	18519675	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
Bipolar disorder	19114987	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4530800-4533000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr11:4531800-4534200	Enhancers	Ovary	ovary
3	chr11:4532000-4534000	Enhancers	Fetal Lung	lung
4	chr11:4532200-4533000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:4532400-4533000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr11:4532600-4533600	Enhancers	Rectal Smooth Muscle	rectum
7	chr11:4532600-4535600	Enhancers	Colon Smooth Muscle	Colon
8	chr11:4532800-4533000	Enhancers	Stomach Smooth Muscle	stomach
9	chr11:4533000-4534000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr11:4533600-4534600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr11:4534000-4534200	Enhancers	Stomach Smooth Muscle	stomach
12	chr11:4534200-4536200	Weak transcription	Ovary	ovary

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