Variant report

Variant	nsv553993
Chromosome Location	chr11:33052481-33054643
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:32913485..32915612-chr11:33052114..33054886,2	K562	blood:
2	chr11:33033569..33035626-chr11:33052548..33054662,2	K562	blood:
3	chr11:33049785..33058354-chr11:33058756..33063053,11	K562	blood:
4	chr11:33049034..33053308-chr11:33058288..33062133,5	K562	blood:
5	chr11:33041861..33044073-chr11:33051404..33053946,2	K562	blood:
6	chr11:33044055..33046027-chr11:33049637..33052568,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000060749	chromatin interactions
ENSG00000176148	chromatin interactions

Extended variants
information (count: 85 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16923752	chr11:33052481-33052482	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs12287906	chr11:33052506-33052507	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs562898389	chr11:33052512-33052513	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs531735812	chr11:33052533-33052534	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs551945783	chr11:33052554-33052555	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs78565663	chr11:33052574-33052575	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs527738096	chr11:33052617-33052618	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs547990696	chr11:33052618-33052619	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs386752252	chr11:33052654-33052655	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs7951757	chr11:33052655-33052656	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs7951976	chr11:33052673-33052674	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs150595174	chr11:33052696-33052697	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs377494627	chr11:33052711-33052712	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs191240514	chr11:33052753-33052754	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs571344799	chr11:33052757-33052758	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs533619435	chr11:33052761-33052762	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs553969550	chr11:33052886-33052887	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs56308649	chr11:33052893-33052894	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs138124613	chr11:33052920-33052921	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs202124209	chr11:33052990-33052991	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs36077875	chr11:33053005-33053006	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs370729400	chr11:33053022-33053023	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs75979055	chr11:33053036-33053037	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs35988670	chr11:33053074-33053075	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs377186754	chr11:33053081-33053082	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs370596448	chr11:33053084-33053085	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs545422867	chr11:33053092-33053093	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs565250499	chr11:33053103-33053104	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs966191	chr11:33053107-33053108	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs34315039	chr11:33053212-33053213	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs4567427	chr11:33053317-33053318	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs372101566	chr11:33053345-33053346	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs143822066	chr11:33053349-33053350	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs530226055	chr11:33053357-33053358	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs147253047	chr11:33053444-33053445	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs547605493	chr11:33053483-33053484	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs140813670	chr11:33053515-33053516	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs200949504	chr11:33053531-33053532	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs141951224	chr11:33053532-33053533	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs199585112	chr11:33053534-33053535	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs397738540	chr11:33053538-33053539	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs532641786	chr11:33053569-33053570	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs555591695	chr11:33053621-33053622	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs59642777	chr11:33053623-33053624	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs550980289	chr11:33053701-33053702	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs571142558	chr11:33053715-33053716	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs4511261	chr11:33053737-33053738	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs553584117	chr11:33053738-33053739	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs144764421	chr11:33053781-33053782	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs368531260	chr11:33053830-33053831	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
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
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	22286061	CNVD
Aniridia syndrome	21572526	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Retinoblastoma	22278416	CNVD
Denys-drash syndrome	21085971	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
WAGR syndrome	16773131	CNVD
Disorders of sex development	22290220	CNVD
Aniridia syndrome	17204608	CNVD
Mental retardation	17204608	CNVD
WAGR syndrome	19617690	CNVD
genitourinary abnormalities	17204608	CNVD
Breast cancer	16397240	CNVD
Mental retardation	16773131	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Cancer	21183584	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
WAGR syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Denys-drash syndrome	19566914	CNVD
Familial wilms tumor	19566914	CNVD
Frasier syndrome	19566914	CNVD
Non-small cell lung cancer	21829676	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	16620391	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33038200-33060200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:33039200-33053800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr11:33039200-33060200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr11:33039400-33060400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:33039600-33060400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:33040800-33060200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr11:33040800-33060400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr11:33041400-33060200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr11:33043600-33060200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr11:33043800-33056600	Weak transcription	A549	lung
11	chr11:33044400-33056800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr11:33045200-33056800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr11:33045200-33060600	Weak transcription	Small Intestine	intestine
14	chr11:33045800-33058400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr11:33046000-33057000	Strong transcription	HSMM	muscle
16	chr11:33046800-33054000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr11:33047000-33060400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr11:33047000-33060600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr11:33049000-33053200	Weak transcription	NHDF-Ad	bronchial
20	chr11:33049000-33060000	Weak transcription	NHEK	skin
21	chr11:33049800-33055200	Strong transcription	Liver	Liver
22	chr11:33050000-33060400	Weak transcription	Fetal Lung	lung
23	chr11:33050000-33060400	Weak transcription	HSMMtube	muscle
24	chr11:33050200-33053000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr11:33050200-33060400	Weak transcription	HMEC	breast
26	chr11:33050400-33052600	Weak transcription	HepG2	liver
27	chr11:33050400-33052800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:33050400-33060200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:33050400-33060200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:33050400-33060200	Weak transcription	Brain Hippocampus Middle	brain
31	chr11:33050400-33060200	Weak transcription	NHLF	lung
32	chr11:33050600-33052600	Strong transcription	Fetal Intestine Small	intestine
33	chr11:33050800-33053200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:33051000-33054800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:33052000-33054600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:33052400-33053200	Strong transcription	Fetal Muscle Trunk	muscle
37	chr11:33052400-33053400	Strong transcription	Fetal Muscle Leg	muscle
38	chr11:33052400-33053400	Strong transcription	K562	blood
39	chr11:33052400-33053800	Strong transcription	Hela-S3	cervix
40	chr11:33052400-33053800	Strong transcription	Osteobl	bone
41	chr11:33052400-33054600	Strong transcription	Fetal Intestine Large	intestine
42	chr11:33052400-33055600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:33052600-33054200	Strong transcription	HepG2	liver
44	chr11:33052600-33056400	Weak transcription	Fetal Intestine Small	intestine
45	chr11:33052800-33055400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr11:33053000-33053800	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr11:33053200-33053800	Strong transcription	NHDF-Ad	bronchial
48	chr11:33053200-33054600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr11:33053200-33060200	Weak transcription	Fetal Muscle Trunk	muscle
50	chr11:33053400-33060200	Weak transcription	Fetal Muscle Leg	muscle

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