Variant report

Variant	nsv522040
Chromosome Location	chr11:3933564-3938385
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 190 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:190 , 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	rs10430939	chr11:3933564-3933565	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536758365	chr11:3933618-3933619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs111851528	chr11:3933626-3933627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191456523	chr11:3933636-3933637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543049425	chr11:3933683-3933684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564000856	chr11:3933712-3933713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534901634	chr11:3933758-3933759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532839735	chr11:3933776-3933777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546486673	chr11:3933787-3933788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553332507	chr11:3933793-3933794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184658797	chr11:3933812-3933813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543008784	chr11:3933842-3933843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561273397	chr11:3933843-3933844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576557477	chr11:3933866-3933867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190765811	chr11:3933885-3933886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73425461	chr11:3933950-3933951	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs532633082	chr11:3934002-3934003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73425465	chr11:3934028-3934029	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs112634377	chr11:3934067-3934068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192856198	chr11:3934090-3934091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530345323	chr11:3934091-3934092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs9988893	chr11:3934108-3934109	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs10767702	chr11:3934132-3934133	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs185355706	chr11:3934165-3934166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10835285	chr11:3934185-3934186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552027975	chr11:3934206-3934207	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73425467	chr11:3934209-3934210	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs139081347	chr11:3934220-3934221	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553218329	chr11:3934243-3934244	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs149837701	chr11:3934295-3934296	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs58280202	chr11:3934328-3934329	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs145808886	chr11:3934329-3934330	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576396717	chr11:3934333-3934334	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544212711	chr11:3934344-3934345	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558815092	chr11:3934411-3934412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs7122796	chr11:3934429-3934430	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs368830418	chr11:3934451-3934452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541234222	chr11:3934517-3934518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559531189	chr11:3934521-3934522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530283818	chr11:3934552-3934553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs113640980	chr11:3934563-3934564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs60166118	chr11:3934584-3934585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542163354	chr11:3934665-3934666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140723361	chr11:3934697-3934698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530450708	chr11:3934747-3934748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145869313	chr11:3934772-3934773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570416810	chr11:3934793-3934794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189416171	chr11:3934838-3934839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546768440	chr11:3934851-3934852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568306631	chr11:3934900-3934901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:172 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3916600-3943800	Weak transcription	Fetal Stomach	stomach
2	chr11:3916600-3948800	Weak transcription	Aorta	Aorta
3	chr11:3924000-3950600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr11:3924200-3934400	Weak transcription	Gastric	stomach
5	chr11:3924800-3938200	Weak transcription	Pancreas	Pancrea
6	chr11:3925800-3941000	Weak transcription	Right Ventricle	heart
7	chr11:3926600-3938400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr11:3926600-3941000	Weak transcription	Small Intestine	intestine
9	chr11:3926800-3937000	Weak transcription	Lung	lung
10	chr11:3927200-3936000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr11:3927200-3942600	Weak transcription	Spleen	Spleen
12	chr11:3927400-3941200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr11:3927600-3943600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr11:3928400-3940800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr11:3928800-3938200	Weak transcription	A549	lung
16	chr11:3929000-3938200	Weak transcription	Esophagus	oesophagus
17	chr11:3929200-3934200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr11:3929200-3934400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr11:3929200-3935400	Weak transcription	Primary B cells from cord blood	blood
20	chr11:3929200-3935600	Weak transcription	Primary B cells from peripheral blood	blood
21	chr11:3929200-3936000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:3929200-3937200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr11:3929200-3938200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr11:3929200-3940800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:3929400-3937200	Weak transcription	Dnd41	blood
26	chr11:3929400-3937400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:3929400-3938200	Weak transcription	GM12878-XiMat	blood
28	chr11:3929400-3950600	Weak transcription	Ovary	ovary
29	chr11:3930200-3938000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:3930400-3934600	Weak transcription	HepG2	liver
31	chr11:3930400-3936000	Weak transcription	HMEC	breast
32	chr11:3930400-3937000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr11:3930400-3937400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr11:3930600-3936000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr11:3930600-3938200	Weak transcription	Psoas Muscle	Psoas
36	chr11:3930600-3940800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr11:3931400-3934000	Weak transcription	Liver	Liver
38	chr11:3931400-3941000	Weak transcription	Adipose Nuclei	Adipose
39	chr11:3931600-3942600	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr11:3932000-3934400	Enhancers	Thymus	Thymus
41	chr11:3932000-3934800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr11:3932000-3935000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr11:3932200-3942800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr11:3932400-3944000	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr11:3932600-3935000	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr11:3932800-3934200	Enhancers	Primary T cells from cord blood	blood
47	chr11:3932800-3941000	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr11:3933000-3933600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr11:3933000-3934000	Weak transcription	Fetal Thymus	thymus
50	chr11:3933000-3934000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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