Variant report

Variant	esv2543425
Chromosome Location	chr11:10145328-10146790
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	chr11:10142764..10144683-chr11:10146496..10148132,2	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16907483	chr11:10145331-10145332	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188159811	chr11:10145351-10145352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566262342	chr11:10145480-10145481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181050861	chr11:10145551-10145552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112870383	chr11:10145560-10145561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548896874	chr11:10145582-10145583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372654402	chr11:10145622-10145623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs35651900	chr11:10145635-10145636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536604913	chr11:10145751-10145752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557024639	chr11:10145779-10145780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs148261553	chr11:10145799-10145800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550602124	chr11:10145843-10145844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184138337	chr11:10145881-10145882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35198452	chr11:10145914-10145915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552779537	chr11:10145916-10145917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs141266700	chr11:10145925-10145926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576334670	chr11:10145934-10145935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs57520536	chr11:10145965-10145966	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs118086542	chr11:10145966-10145967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs61878635	chr11:10146034-10146035	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs563827011	chr11:10146045-10146046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369672944	chr11:10146079-10146080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73412842	chr11:10146162-10146163	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs370123686	chr11:10146177-10146178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560036449	chr11:10146235-10146236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs386750587	chr11:10146267-10146268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560677485	chr11:10146269-10146270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs80283924	chr11:10146289-10146290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150764056	chr11:10146306-10146307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530552716	chr11:10146330-10146331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111639399	chr11:10146400-10146401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189982938	chr11:10146402-10146403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377291633	chr11:10146415-10146416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201248063	chr11:10146418-10146419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs61878636	chr11:10146469-10146470	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs538531849	chr11:10146504-10146505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373032521	chr11:10146508-10146509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113713080	chr11:10146513-10146514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs117869609	chr11:10146645-10146646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374673085	chr11:10146655-10146656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200305955	chr11:10146674-10146675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371653455	chr11:10146675-10146676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76849586	chr11:10146676-10146677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575419780	chr11:10146689-10146690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145951936	chr11:10146772-10146773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10122200-10156400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:10123200-10156400	Weak transcription	Fetal Intestine Small	intestine
3	chr11:10137200-10161800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:10140000-10156200	Weak transcription	Fetal Lung	lung
5	chr11:10142600-10145800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:10142800-10145400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr11:10143400-10146000	Enhancers	HMEC	breast
8	chr11:10144200-10160800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:10144400-10152600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:10144600-10156400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:10144800-10145400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr11:10144800-10145400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:10144800-10145600	Enhancers	Hela-S3	cervix
14	chr11:10144800-10147000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr11:10144800-10147000	Weak transcription	Osteobl	bone
16	chr11:10144800-10147200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:10144800-10147200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:10144800-10147800	Weak transcription	NHLF	lung
19	chr11:10144800-10148000	Weak transcription	Adipose Nuclei	Adipose
20	chr11:10144800-10152600	Weak transcription	Ovary	ovary
21	chr11:10144800-10154800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr11:10144800-10155200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr11:10144800-10161400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr11:10144800-10161400	Weak transcription	HSMM	muscle
25	chr11:10144800-10170400	Weak transcription	Left Ventricle	heart
26	chr11:10145000-10145400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:10145000-10145400	Weak transcription	NHDF-Ad	bronchial
28	chr11:10145000-10146000	Enhancers	A549	lung
29	chr11:10145000-10146200	Enhancers	NHEK	skin
30	chr11:10145000-10147000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr11:10145000-10147200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr11:10145000-10148200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr11:10145200-10145400	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr11:10145400-10145600	Enhancers	NHDF-Ad	bronchial
35	chr11:10145400-10146800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:10145400-10160800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr11:10145400-10160800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:10145600-10147200	Weak transcription	NHDF-Ad	bronchial
39	chr11:10145800-10156400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:10146000-10147200	Weak transcription	HMEC	breast
41	chr11:10146200-10147400	Weak transcription	NHEK	skin

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