Variant report

Variant	esv2762917
Chromosome Location	chr11:76959189-76968918
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:76958203..76960102-chr11:76961954..76963936,2	MCF-7	breast:
2	chr11:76961815..76963648-chr11:76964975..76966813,2	K562	blood:
3	chr11:76963522..76965239-chr11:76974223..76976963,2	K562	blood:
4	chr11:76958203..76960102-chr11:76961954..76963936,2	MCF-7	breast:
5	chr11:76961815..76963648-chr11:76964975..76966813,2	K562	blood:
6	chr11:76960179..76961868-chr11:76980870..76982762,2	MCF-7	breast:

Extended variants
information (count: 389 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:389 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148667696	chr11:76959194-76959195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373934065	chr11:76959195-76959196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79812066	chr11:76959236-76959237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554374319	chr11:76959238-76959239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577250297	chr11:76959271-76959272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs193070554	chr11:76959287-76959288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7109758	chr11:76959329-76959330	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs182662132	chr11:76959342-76959343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146280875	chr11:76959398-76959399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542701231	chr11:76959438-76959439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186887321	chr11:76959439-76959440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528267859	chr11:76959459-76959460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551422970	chr11:76959476-76959477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571582331	chr11:76959498-76959499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530796248	chr11:76959525-76959526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535675341	chr11:76959530-76959531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550201629	chr11:76959541-76959542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7125798	chr11:76959598-76959599	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs569417076	chr11:76959661-76959662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535615358	chr11:76959676-76959677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555824865	chr11:76959695-76959696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539842178	chr11:76959710-76959711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566167897	chr11:76959721-76959722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191376760	chr11:76959751-76959752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557894464	chr11:76959758-76959759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35110661	chr11:76959804-76959805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577922512	chr11:76959872-76959873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573168420	chr11:76959880-76959881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183480311	chr11:76959891-76959892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189411237	chr11:76959920-76959921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568506140	chr11:76959934-76959935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375052820	chr11:76960000-76960001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572691168	chr11:76960003-76960004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574532837	chr11:76960035-76960036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs193145613	chr11:76960047-76960048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs80322870	chr11:76960069-76960070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542386612	chr11:76960080-76960081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559383592	chr11:76960172-76960173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541662192	chr11:76960199-76960200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545246987	chr11:76960219-76960220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185589283	chr11:76960226-76960227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530833944	chr11:76960259-76960260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373731247	chr11:76960260-76960261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550884516	chr11:76960263-76960264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs7935940	chr11:76960267-76960268	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs190120994	chr11:76960268-76960269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs181492478	chr11:76960297-76960298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs34998852	chr11:76960309-76960310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs71473335	chr11:76960310-76960311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs143641667	chr11:76960334-76960335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Breast cancer	16620391	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Usher syndrome	18421352	CNVD
Ovarian cancer	21240255	CNVD
Ovarian cancer	22355333	CNVD
Breast cancer	20932292	CNVD
Cancer	20164920	CNVD
Ovarian cancer	20844748	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76956200-76963600	Weak transcription	Stomach Mucosa	stomach
2	chr11:76956400-76960200	Weak transcription	HMEC	breast
3	chr11:76956400-76960400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:76956400-76960400	Weak transcription	Liver	Liver
5	chr11:76956400-76960400	Weak transcription	NH-A	brain
6	chr11:76956400-76960600	Weak transcription	NHLF	lung
7	chr11:76956400-76964800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr11:76956600-76960400	Weak transcription	HUVEC	blood vessel
9	chr11:76956600-76960400	Weak transcription	Osteobl	bone
10	chr11:76956600-76960600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:76956600-76960800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr11:76956800-76960200	Weak transcription	NHEK	skin
13	chr11:76956800-76960400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:76956800-76960600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:76956800-76961600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:76957000-76960400	Weak transcription	NHDF-Ad	bronchial
17	chr11:76957000-76961800	Weak transcription	HepG2	liver
18	chr11:76957200-76970600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr11:76960200-76962200	Enhancers	NHEK	skin
20	chr11:76960200-76965000	Enhancers	HMEC	breast
21	chr11:76960400-76960800	Enhancers	Osteobl	bone
22	chr11:76960400-76961600	Enhancers	HUVEC	blood vessel
23	chr11:76960400-76961800	Enhancers	NHDF-Ad	bronchial
24	chr11:76960400-76962400	Enhancers	NH-A	brain
25	chr11:76960400-76964000	Enhancers	Liver	Liver
26	chr11:76960400-76964600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:76960400-76965200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr11:76960600-76960800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:76960600-76960800	Active TSS	NHLF	lung
30	chr11:76960600-76964600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:76960800-76961200	Enhancers	Muscle Satellite Cultured Cells	--
32	chr11:76960800-76961800	Weak transcription	Osteobl	bone
33	chr11:76961200-76961400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr11:76961400-76962600	Enhancers	Muscle Satellite Cultured Cells	--
35	chr11:76961600-76962000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:76961600-76962000	Flanking Active TSS	HUVEC	blood vessel
37	chr11:76961800-76962000	Enhancers	Osteobl	bone
38	chr11:76961800-76962400	Enhancers	HepG2	liver
39	chr11:76962000-76963000	Enhancers	HUVEC	blood vessel
40	chr11:76962200-76962800	Flanking Active TSS	NHEK	skin
41	chr11:76962400-76962600	ZNF genes & repeats	HepG2	liver
42	chr11:76962600-76963400	Weak transcription	HepG2	liver
43	chr11:76962800-76964000	Enhancers	NHEK	skin
44	chr11:76963000-76964000	Weak transcription	HUVEC	blood vessel
45	chr11:76963400-76963600	Enhancers	HepG2	liver
46	chr11:76963600-76964800	Flanking Active TSS	HepG2	liver
47	chr11:76963600-76965400	Enhancers	Stomach Mucosa	stomach
48	chr11:76963800-76964400	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr11:76963800-76965000	Enhancers	Duodenum Mucosa	Duodenum
50	chr11:76963800-76965400	Enhancers	Gastric	stomach

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