Variant report

Variant	esv17044
Chromosome Location	chr11:76107247-76111858
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	chr11:76090676..76093009-chr11:76108508..76110107,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137492	chromatin interactions
ENSG00000179240	chromatin interactions

Extended variants
information (count: 184 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:184 , 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	rs186608825	chr11:76107302-76107303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs191446379	chr11:76107315-76107316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138771760	chr11:76107357-76107358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531247685	chr11:76107372-76107373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551254959	chr11:76107407-76107408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4945080	chr11:76107444-76107445	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs530311912	chr11:76107446-76107447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546818299	chr11:76107454-76107455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566938704	chr11:76107460-76107461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4945081	chr11:76107473-76107474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558928806	chr11:76107475-76107476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200377183	chr11:76107478-76107479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568880926	chr11:76107504-76107505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536959930	chr11:76107607-76107608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556792717	chr11:76107610-76107611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573549183	chr11:76107611-76107612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542799373	chr11:76107618-76107619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552827547	chr11:76107628-76107629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572873865	chr11:76107640-76107641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10793157	chr11:76107652-76107653	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs372624572	chr11:76107676-76107677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564883341	chr11:76107720-76107721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184702201	chr11:76107758-76107759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544967929	chr11:76107806-76107807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561554273	chr11:76107819-76107820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531966061	chr11:76107845-76107846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530264444	chr11:76107955-76107956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369527364	chr11:76108042-76108043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs33979371	chr11:76108046-76108047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11401694	chr11:76108047-76108048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs398016715	chr11:76108066-76108067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188863771	chr11:76108080-76108081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549970831	chr11:76108093-76108094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566922057	chr11:76108108-76108109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532652308	chr11:76108113-76108114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs193106992	chr11:76108191-76108192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185142757	chr11:76108194-76108195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371584485	chr11:76108195-76108196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556878778	chr11:76108204-76108205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190076072	chr11:76108211-76108212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143817833	chr11:76108232-76108233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536085983	chr11:76108236-76108237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532322182	chr11:76108263-76108264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150675132	chr11:76108369-76108370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs58191957	chr11:76108371-76108372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553155218	chr11:76108406-76108407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572910650	chr11:76108438-76108439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs74868233	chr11:76108510-76108511	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs181174038	chr11:76108536-76108537	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs184287569	chr11:76108588-76108589	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

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

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76093000-76111000	Weak transcription	Aorta	Aorta
2	chr11:76093600-76110000	Weak transcription	Brain Hippocampus Middle	brain
3	chr11:76097200-76122000	Weak transcription	Fetal Stomach	stomach
4	chr11:76100400-76109000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:76104600-76110200	Weak transcription	Right Atrium	heart
6	chr11:76109000-76109800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:76110800-76111000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:76111000-76119200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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