Variant report

Variant	esv3472040
Chromosome Location	chr11:100676328-100677816
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	chr11:100671702..100674321-chr11:100674675..100677344,2	MCF-7	breast:

Extended variants
information (count: 69 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550465620	chr11:100676333-100676334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561119391	chr11:100676349-100676350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529991525	chr11:100676372-100676373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148136688	chr11:100676384-100676385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566486419	chr11:100676452-100676453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551261897	chr11:100676455-100676456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533240857	chr11:100676464-100676465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs377584532	chr11:100676475-100676476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546736299	chr11:100676494-100676495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568826520	chr11:100676589-100676590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73575594	chr11:100676593-100676594	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs664235	chr11:100676682-100676683	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs574972540	chr11:100676724-100676725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566505502	chr11:100676731-100676732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534260701	chr11:100676770-100676771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528494	chr11:100676824-100676825	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs187867761	chr11:100676869-100676870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145318750	chr11:100676981-100676982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563013461	chr11:100676989-100676990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs74977722	chr11:100676990-100676991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542285914	chr11:100677000-100677001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568298981	chr11:100677001-100677002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529877648	chr11:100677003-100677004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546921863	chr11:100677010-100677011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560458691	chr11:100677050-100677051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536957551	chr11:100677051-100677052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535999217	chr11:100677069-100677070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532161427	chr11:100677070-100677071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs76402612	chr11:100677080-100677081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568814208	chr11:100677081-100677082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570708127	chr11:100677092-100677093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs112107506	chr11:100677158-100677159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs608666	chr11:100677162-100677163	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs532256	chr11:100677241-100677242	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs666874	chr11:100677262-100677263	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543692700	chr11:100677282-100677283	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568568912	chr11:100677290-100677291	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575572693	chr11:100677304-100677305	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575807710	chr11:100677325-100677326	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191005950	chr11:100677327-100677328	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549268895	chr11:100677333-100677334	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs58054749	chr11:100677335-100677336	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs66630611	chr11:100677336-100677337	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554065535	chr11:100677369-100677370	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539521005	chr11:100677386-100677387	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192594891	chr11:100677390-100677391	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142309786	chr11:100677396-100677397	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs539728251	chr11:100677510-100677511	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556309421	chr11:100677528-100677529	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576377642	chr11:100677532-100677533	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	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
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mantle cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100645600-100679800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr11:100645800-100679600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr11:100656600-100679600	Weak transcription	Fetal Lung	lung
4	chr11:100660400-100679400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr11:100660400-100679600	Weak transcription	Stomach Mucosa	stomach
6	chr11:100660400-100683600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:100660600-100679600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr11:100660600-100679600	Weak transcription	HSMM	muscle
9	chr11:100660600-100680000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:100660600-100680400	Weak transcription	Left Ventricle	heart
11	chr11:100662600-100679600	Weak transcription	Fetal Heart	heart
12	chr11:100663000-100691800	Weak transcription	Fetal Muscle Leg	muscle
13	chr11:100663200-100679600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr11:100663200-100679600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:100663400-100679800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr11:100666400-100679600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:100667200-100685200	Weak transcription	Primary B cells from cord blood	blood
18	chr11:100667800-100679600	Weak transcription	Fetal Intestine Small	intestine
19	chr11:100669600-100680400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr11:100669800-100677200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:100669800-100679600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:100669800-100679800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr11:100670000-100697400	Weak transcription	Placenta	Placenta
24	chr11:100673600-100687600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:100675600-100676600	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr11:100676000-100679800	Weak transcription	Brain Substantia Nigra	brain
27	chr11:100676400-100677400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:100676600-100676800	Enhancers	Gastric	stomach
29	chr11:100676600-100676800	Enhancers	Osteobl	bone
30	chr11:100676600-100677600	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr11:100676800-100677000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:100676800-100678200	Weak transcription	Gastric	stomach
33	chr11:100676800-100679600	Weak transcription	Osteobl	bone
34	chr11:100677000-100678000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:100677200-100678800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:100677400-100679600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:100677600-100678200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr11:100677600-100678200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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