Variant report

Variant	esv17589
Chromosome Location	chr11:76906030-76906635
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:76906576..76907452-chr11:77259126..77259917,4	MCF-7	breast:
2	chr11:76906503..76907469-chr11:77258976..77259541,2	K562	blood:
3	chr11:76906391..76907428-chr11:77080845..77082151,7	MCF-7	breast:
4	chr11:76906559..76907619-chr11:77259021..77259968,8	MCF-7	breast:
5	chr11:76906449..76907116-chr11:77268005..77269240,5	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs867508	chr11:76906040-76906041	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538468246	chr11:76906042-76906043	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554734083	chr11:76906071-76906072	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568464741	chr11:76906080-76906081	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534177084	chr11:76906084-76906085	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs867507	chr11:76906102-76906103	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs576398497	chr11:76906107-76906108	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145352491	chr11:76906130-76906131	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs118188655	chr11:76906149-76906150	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138014796	chr11:76906179-76906180	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs11237110	chr11:76906192-76906193	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs867506	chr11:76906207-76906208	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs527593485	chr11:76906230-76906231	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs541297790	chr11:76906261-76906262	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560495906	chr11:76906283-76906284	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192107071	chr11:76906285-76906286	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7481443	chr11:76906326-76906327	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs569375635	chr11:76906328-76906329	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs867505	chr11:76906341-76906342	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs114997399	chr11:76906353-76906354	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183480902	chr11:76906354-76906355	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs117307532	chr11:76906359-76906360	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575427735	chr11:76906373-76906374	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187520206	chr11:76906381-76906382	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570131513	chr11:76906385-76906386	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs883742	chr11:76906468-76906469	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs555881945	chr11:76906544-76906545	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149090775	chr11:76906556-76906557	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192091517	chr11:76906572-76906573	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543334978	chr11:76906574-76906575	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184095678	chr11:76906577-76906578	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541206513	chr11:76906582-76906583	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10466706	chr11:76906621-76906622	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs577851962	chr11:76906631-76906632	Weak transcription Genic enhancers Enhancers Strong transcription	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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76880400-76916600	Weak transcription	Right Atrium	heart
2	chr11:76890800-76918400	Weak transcription	Ovary	ovary
3	chr11:76899800-76928200	Strong transcription	Liver	Liver
4	chr11:76903200-76906400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr11:76903400-76906200	Weak transcription	Fetal Stomach	stomach
6	chr11:76903600-76928000	Weak transcription	Colonic Mucosa	Colon
7	chr11:76903600-76928600	Strong transcription	Fetal Intestine Small	intestine
8	chr11:76904000-76906200	Weak transcription	Right Ventricle	heart
9	chr11:76904000-76906200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr11:76904000-76906400	Weak transcription	Brain Anterior Caudate	brain
11	chr11:76904000-76906400	Weak transcription	Fetal Brain Male	brain
12	chr11:76904000-76906400	Weak transcription	Stomach Mucosa	stomach
13	chr11:76904000-76908000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:76904000-76909600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:76904000-76910600	Weak transcription	HepG2	liver
16	chr11:76904200-76927600	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr11:76904600-76906600	Weak transcription	Gastric	stomach
18	chr11:76904600-76906600	Strong transcription	Pancreas	Pancrea
19	chr11:76904600-76906800	Strong transcription	Spleen	Spleen
20	chr11:76904600-76913200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr11:76904600-76915600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr11:76904600-76927800	Strong transcription	Fetal Intestine Large	intestine
23	chr11:76905000-76907000	Strong transcription	Adipose Nuclei	Adipose
24	chr11:76905000-76909600	Weak transcription	Esophagus	oesophagus
25	chr11:76905400-76906800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr11:76905800-76907000	Enhancers	Fetal Muscle Trunk	muscle
27	chr11:76905800-76908000	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr11:76906000-76906600	Genic enhancers	Placenta	Placenta
29	chr11:76906000-76907000	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr11:76906000-76907400	Enhancers	Fetal Muscle Leg	muscle
31	chr11:76906000-76908600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr11:76906200-76906600	Enhancers	Fetal Stomach	stomach
33	chr11:76906200-76906600	Enhancers	Right Ventricle	heart
34	chr11:76906200-76906800	Enhancers	Psoas Muscle	Psoas
35	chr11:76906200-76907000	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr11:76906200-76907000	Enhancers	HSMM	muscle
37	chr11:76906200-76907200	Enhancers	HSMMtube	muscle
38	chr11:76906400-76906800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr11:76906400-76906800	Enhancers	Fetal Brain Male	brain
40	chr11:76906400-76906800	Enhancers	Left Ventricle	heart
41	chr11:76906400-76907000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:76906400-76907000	Enhancers	Muscle Satellite Cultured Cells	--
43	chr11:76906400-76907000	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr11:76906400-76908400	Enhancers	Stomach Mucosa	stomach
45	chr11:76906600-76906800	Enhancers	Duodenum Mucosa	Duodenum
46	chr11:76906600-76907000	Enhancers	Fetal Brain Female	brain
47	chr11:76906600-76907000	Enhancers	Gastric	stomach
48	chr11:76906600-76909200	Strong transcription	Placenta	Placenta
49	chr11:76906600-76909600	Weak transcription	Pancreas	Pancrea
50	chr11:76906600-76913200	Weak transcription	Fetal Stomach	stomach

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