Variant report

Variant	esv3389127
Chromosome Location	chr11:9928122-9928542
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:9926975..9929844-chr11:10324322..10328573,4	MCF-7	breast:
2	chr11:9918384..9921801-chr11:9925480..9929741,5	MCF-7	breast:
3	chr11:9928185..9930607-chr11:9931281..9933826,2	MCF-7	breast:
4	chr11:9926719..9929001-chr11:10324531..10327507,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000148926	chromatin interactions
ENSG00000254554	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140271634	chr11:9928123-9928124	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs572145414	chr11:9928138-9928139	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs533966420	chr11:9928176-9928177	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs182512414	chr11:9928241-9928242	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs369503169	chr11:9928308-9928309	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs150332165	chr11:9928313-9928314	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs137976392	chr11:9928330-9928331	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs553693691	chr11:9928338-9928339	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs550047932	chr11:9928368-9928369	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs112907314	chr11:9928387-9928388	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs536924947	chr11:9928453-9928454	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs563476569	chr11:9928454-9928455	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs117698693	chr11:9928511-9928512	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs61876926	chr11:9928517-9928518	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	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:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9878800-9952200	Weak transcription	Aorta	Aorta
2	chr11:9882400-9929600	Weak transcription	Primary T cells from cord blood	blood
3	chr11:9894400-9978600	Weak transcription	Left Ventricle	heart
4	chr11:9904000-9937000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr11:9910000-9954600	Weak transcription	Pancreas	Pancrea
6	chr11:9913600-9928800	Weak transcription	Right Ventricle	heart
7	chr11:9915000-9937200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr11:9916600-9932600	Weak transcription	Fetal Intestine Small	intestine
9	chr11:9916800-9944400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:9916800-9944400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr11:9917000-9937200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr11:9917600-9928200	Weak transcription	Liver	Liver
13	chr11:9917600-9928200	Weak transcription	Fetal Heart	heart
14	chr11:9917600-9933200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:9917600-9934200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr11:9917600-9951800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr11:9917600-9952400	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr11:9917800-9933200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr11:9917800-9952600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr11:9920000-9933200	Weak transcription	Fetal Stomach	stomach
21	chr11:9921400-9934400	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr11:9923400-9943600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:9923400-9952200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:9924000-9944400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr11:9925200-9930000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr11:9925200-9944400	Weak transcription	Ovary	ovary
27	chr11:9925400-9928800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr11:9925400-9929600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr11:9925400-9951000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr11:9925400-9952200	Weak transcription	Lung	lung
31	chr11:9926000-9928200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:9926000-9928400	Enhancers	H1 Cell Line	embryonic stem cell
33	chr11:9926200-9929400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr11:9926200-9929600	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr11:9926200-9929600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr11:9926200-9929600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr11:9926200-9929600	Enhancers	Osteobl	bone
38	chr11:9926400-9929400	Enhancers	NHEK	skin
39	chr11:9926400-9929600	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr11:9926400-9929600	Enhancers	HSMMtube	muscle
41	chr11:9926400-9929600	Enhancers	NH-A	brain
42	chr11:9926400-9929600	Enhancers	NHLF	lung
43	chr11:9926400-9929800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:9926600-9928600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:9926600-9929200	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr11:9926600-9929400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr11:9926800-9929400	Enhancers	Hela-S3	cervix
48	chr11:9927000-9928400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr11:9927000-9929600	Enhancers	HSMM	muscle
50	chr11:9927200-9928600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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