Variant report

Variant	esv3327021
Chromosome Location	chr11:10679466-10679950
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:10679153..10681988-chr11:10698825..10701306,2	K562	blood:
2	chr11:10679384..10682080-chr20:56827072..56828747,2	MCF-7	breast:
3	chr11:10678901..10680801-chr11:10754781..10757131,2	MCF-7	breast:
4	chr11:10679397..10680975-chr11:10707592..10709737,2	K562	blood:
5	chr11:10675148..10677906-chr11:10678421..10681418,4	MCF-7	breast:
6	chr11:10674925..10678334-chr11:10679453..10682484,4	MCF-7	breast:
7	chr11:10678917..10680760-chr11:10757378..10759987,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187581200	chr11:10679533-10679534	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547545034	chr11:10679549-10679550	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs193227350	chr11:10679553-10679554	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536219678	chr11:10679592-10679593	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549822710	chr11:10679593-10679594	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533035940	chr11:10679626-10679627	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs369595516	chr11:10679632-10679633	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs374760425	chr11:10679739-10679740	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs538565008	chr11:10679740-10679741	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs558706197	chr11:10679747-10679748	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs572191071	chr11:10679758-10679759	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs1544862	chr11:10679759-10679760	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs368275148	chr11:10679816-10679817	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs545906229	chr11:10679872-10679873	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs573820256	chr11:10679911-10679912	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs114511934	chr11:10679939-10679940	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs138687416	chr11:10679945-10679946	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs576666694	chr11:10679949-10679950	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Neuroblastoma	18923524	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10673000-10682200	Enhancers	Placenta	Placenta
2	chr11:10673400-10682800	Enhancers	Ovary	ovary
3	chr11:10673800-10681400	Weak transcription	Pancreas	Pancrea
4	chr11:10674000-10681400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr11:10674200-10681800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr11:10674400-10681400	Enhancers	Fetal Muscle Leg	muscle
7	chr11:10674400-10681800	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr11:10674600-10689600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:10675800-10680000	Weak transcription	Brain Angular Gyrus	brain
10	chr11:10676000-10683200	Enhancers	NHDF-Ad	bronchial
11	chr11:10676400-10683400	Genic enhancers	Fetal Stomach	stomach
12	chr11:10676600-10681600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr11:10676800-10679800	Enhancers	Fetal Intestine Large	intestine
14	chr11:10677000-10681800	Enhancers	HSMMtube	muscle
15	chr11:10677000-10682200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:10677000-10683400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:10677200-10682800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr11:10677400-10679800	Enhancers	Fetal Muscle Trunk	muscle
19	chr11:10677400-10680600	Genic enhancers	NHLF	lung
20	chr11:10677400-10680800	Enhancers	Small Intestine	intestine
21	chr11:10677400-10682200	Enhancers	Placenta Amnion	Placenta Amnion
22	chr11:10677400-10683000	Enhancers	Spleen	Spleen
23	chr11:10677600-10680600	Weak transcription	Primary B cells from cord blood	blood
24	chr11:10678000-10680200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:10678000-10680600	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr11:10678200-10681000	Enhancers	Colonic Mucosa	Colon
27	chr11:10678200-10681400	Enhancers	Lung	lung
28	chr11:10678200-10681600	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr11:10678200-10682000	Enhancers	Adipose Nuclei	Adipose
30	chr11:10678400-10679600	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr11:10678400-10679800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr11:10678400-10681400	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr11:10678400-10682200	Enhancers	Brain Anterior Caudate	brain
34	chr11:10678400-10682200	Enhancers	Esophagus	oesophagus
35	chr11:10678400-10682200	Enhancers	Right Atrium	heart
36	chr11:10678400-10682400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr11:10678400-10682600	Enhancers	Left Ventricle	heart
38	chr11:10678600-10680000	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr11:10678600-10680000	Flanking Active TSS	GM12878-XiMat	blood
40	chr11:10678600-10681600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr11:10678600-10681800	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr11:10678600-10682000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:10678600-10682200	Enhancers	Right Ventricle	heart
44	chr11:10678800-10679600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:10678800-10679600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr11:10678800-10679600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr11:10678800-10679800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr11:10678800-10680000	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr11:10678800-10680000	Enhancers	Primary B cells from peripheral blood	blood
50	chr11:10678800-10680000	Enhancers	Primary hematopoietic stem cells	blood

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