Variant report

Variant	esv1328731
Chromosome Location	chr11:33343589-33343590
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:33343171..33345414-chr11:33349512..33351209,2	K562	blood:
2	chr11:33323694..33328844-chr11:33341332..33344470,4	K562	blood:
3	chr11:33278431..33280994-chr11:33343148..33345280,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110422	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 77 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71457303	chr11:33343590-33343591	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

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

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33317400-33345800	Weak transcription	Gastric	stomach
2	chr11:33318000-33360200	Weak transcription	Primary T cells from cord blood	blood
3	chr11:33319200-33348800	Weak transcription	Hela-S3	cervix
4	chr11:33319800-33352600	Weak transcription	Dnd41	blood
5	chr11:33320600-33369400	Weak transcription	Fetal Brain Male	brain
6	chr11:33332200-33360800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr11:33332600-33344200	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr11:33333000-33358200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr11:33333200-33345200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:33333400-33346000	Weak transcription	Pancreas	Pancrea
11	chr11:33333400-33360200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr11:33334600-33347000	Weak transcription	A549	lung
13	chr11:33337200-33346000	Weak transcription	Lung	lung
14	chr11:33338000-33346000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr11:33338400-33352000	Weak transcription	Fetal Stomach	stomach
16	chr11:33339000-33346000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:33339000-33346000	Weak transcription	Fetal Muscle Leg	muscle
18	chr11:33339000-33352600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr11:33339200-33345400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr11:33339400-33345600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr11:33339400-33345800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:33339400-33346000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr11:33339600-33344400	Weak transcription	NHDF-Ad	bronchial
24	chr11:33339600-33345200	Weak transcription	Osteobl	bone
25	chr11:33339600-33347200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr11:33339600-33351000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:33339600-33353400	Weak transcription	NHEK	skin
28	chr11:33339600-33361200	Weak transcription	HUVEC	blood vessel
29	chr11:33339600-33362000	Weak transcription	HMEC	breast
30	chr11:33340000-33345200	Weak transcription	HSMM	muscle
31	chr11:33340400-33343600	Enhancers	Primary hematopoietic stem cells	blood
32	chr11:33341200-33343600	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr11:33341200-33343600	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr11:33341200-33343600	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr11:33341400-33344200	Enhancers	Fetal Intestine Small	intestine
36	chr11:33341800-33344200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr11:33341800-33345400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr11:33342000-33345200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr11:33342200-33361200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr11:33342400-33344000	Weak transcription	Psoas Muscle	Psoas
41	chr11:33342400-33361800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr11:33342600-33345000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr11:33342600-33345600	Weak transcription	Stomach Smooth Muscle	stomach
44	chr11:33342600-33345800	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr11:33342600-33346000	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr11:33342600-33351200	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr11:33342600-33352400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr11:33342600-33358800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr11:33342800-33343800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr11:33342800-33344000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links