Variant report

Variant	esv3408655
Chromosome Location	chr11:76290711-76291225
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:76282655..76284320-chr11:76288646..76291233,2	MCF-7	breast:
2	chr11:76278010..76280644-chr11:76290119..76292118,2	MCF-7	breast:
3	chr11:76263076..76264727-chr11:76289911..76291686,2	K562	blood:
4	chr11:76290103..76291705-chr11:76300211..76301911,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367764609	chr11:76290737-76290738	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs549831960	chr11:76290743-76290744	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs542246671	chr11:76290777-76290778	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs115047413	chr11:76290786-76290787	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs145581529	chr11:76290787-76290788	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs529120831	chr11:76290788-76290789	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs576374278	chr11:76290804-76290805	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs59656013	chr11:76290816-76290817	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs565834587	chr11:76290850-76290851	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs534718834	chr11:76290878-76290879	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs114854829	chr11:76290900-76290901	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs56149987	chr11:76290932-76290933	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs12800595	chr11:76290946-76290947	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs537029291	chr11:76290948-76290949	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs12800605	chr11:76290955-76290956	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs12800609	chr11:76290963-76290964	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs186375344	chr11:76291009-76291010	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs553159875	chr11:76291014-76291015	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs573064608	chr11:76291044-76291045	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs12793527	chr11:76291075-76291076	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs12793534	chr11:76291086-76291087	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs148880372	chr11:76291087-76291088	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs117716604	chr11:76291098-76291099	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs191282052	chr11:76291099-76291100	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs12795799	chr11:76291110-76291111	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs55718522	chr11:76291113-76291114	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs12793560	chr11:76291117-76291118	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs61893460	chr11:76291154-76291155	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs11236787	chr11:76291166-76291167	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs565898355	chr11:76291195-76291196	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs369439262	chr11:76291208-76291209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Acute lymphoblastic leukemia	20067559	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
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Melanoma	18172304	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	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
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21482786	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	16608533	CNVD
Usher syndrome	18421352	CNVD
Breast cancer	21858162	CNVD
Ovarian cancer	21240255	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76282800-76291000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr11:76285600-76291600	Enhancers	Placenta	Placenta
3	chr11:76285800-76292200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr11:76287000-76291000	Enhancers	Fetal Stomach	stomach
5	chr11:76287000-76291400	Enhancers	Placenta Amnion	Placenta Amnion
6	chr11:76287400-76291200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:76287800-76291000	Enhancers	Muscle Satellite Cultured Cells	--
8	chr11:76287800-76291200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:76287800-76291200	Enhancers	Left Ventricle	heart
10	chr11:76288000-76290800	Enhancers	NH-A	brain
11	chr11:76288000-76291000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:76288000-76291200	Enhancers	NHDF-Ad	bronchial
13	chr11:76288000-76291600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr11:76288200-76291000	Enhancers	Fetal Kidney	kidney
15	chr11:76288200-76291000	Enhancers	NHLF	lung
16	chr11:76288200-76291200	Enhancers	Fetal Muscle Trunk	muscle
17	chr11:76288200-76291200	Enhancers	Fetal Muscle Leg	muscle
18	chr11:76288200-76291400	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr11:76288200-76291600	Enhancers	Right Atrium	heart
20	chr11:76288400-76291200	Enhancers	Esophagus	oesophagus
21	chr11:76288600-76291200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:76288600-76291600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:76289000-76290800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:76289000-76291200	Enhancers	Fetal Heart	heart
25	chr11:76289000-76291200	Enhancers	HSMMtube	muscle
26	chr11:76289200-76291200	Enhancers	H1 Cell Line	embryonic stem cell
27	chr11:76289200-76291600	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr11:76289400-76290800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr11:76289400-76291200	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr11:76289600-76290800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:76289800-76291000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:76289800-76291000	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr11:76289800-76291200	Enhancers	Aorta	Aorta
34	chr11:76289800-76291800	Enhancers	Ovary	ovary
35	chr11:76290000-76290800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:76290000-76290800	Enhancers	Fetal Lung	lung
37	chr11:76290000-76290800	Enhancers	K562	blood
38	chr11:76290000-76291800	Enhancers	Spleen	Spleen
39	chr11:76290200-76291000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr11:76290200-76291200	Enhancers	Right Ventricle	heart
41	chr11:76290600-76290800	Enhancers	Duodenum Mucosa	Duodenum
42	chr11:76290600-76290800	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr11:76290600-76290800	Enhancers	Stomach Mucosa	stomach
44	chr11:76290600-76291000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr11:76290600-76291000	Enhancers	Brain Substantia Nigra	brain
46	chr11:76290600-76291000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr11:76290600-76291000	Flanking Active TSS	HUVEC	blood vessel
48	chr11:76290600-76291200	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr11:76290600-76291200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
50	chr11:76290600-76291200	Enhancers	Osteobl	bone

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