Variant report

Variant	esv3411624
Chromosome Location	chr11:33294471-33295061
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:33290160..33295323-chr11:33296264..33299611,6	K562	blood:
2	chr11:33294153..33295925-chr11:33303597..33306470,2	MCF-7	breast:
3	chr11:33277710..33282201-chr11:33292143..33296310,6	K562	blood:
4	chr11:33292487..33295323-chr11:33297832..33299611,2	K562	blood:

Variant related genes	Relation type
ENSG00000110422	chromatin interactions

Extended variants
information (count: 24 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534951545	chr11:33294474-33294475	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs374324358	chr11:33294508-33294509	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs553260259	chr11:33294535-33294536	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs832794	chr11:33294559-33294560	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs192160343	chr11:33294776-33294777	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs183890431	chr11:33294783-33294784	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs186811974	chr11:33294786-33294787	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs376123883	chr11:33294789-33294790	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs563740745	chr11:33294866-33294867	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs573394757	chr11:33294877-33294878	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs116916728	chr11:33294900-33294901	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs568445	chr11:33294928-33294929	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs113422817	chr11:33294981-33294982	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs556079473	chr11:33294987-33294988	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs374115500	chr11:33295007-33295008	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs567545	chr11:33295015-33295016	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs112222811	chr11:33295019-33295020	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs377564788	chr11:33295021-33295022	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs71034666	chr11:33295022-33295023	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs645341	chr11:33295034-33295035	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs551596839	chr11:33295048-33295049	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs645318	chr11:33295057-33295058	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs377504900	chr11:33295058-33295059	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs376665214	chr11:33295059-33295060	Weak transcription Enhancers	Chromatin interactive region	1 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:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33280600-33308200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:33281400-33295200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr11:33281800-33295200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:33284200-33313000	Weak transcription	Fetal Kidney	kidney
5	chr11:33284200-33318200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr11:33285000-33297400	Weak transcription	Fetal Muscle Leg	muscle
7	chr11:33285000-33307400	Weak transcription	Gastric	stomach
8	chr11:33285000-33326200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr11:33285200-33306000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr11:33285200-33308000	Weak transcription	Primary B cells from peripheral blood	blood
11	chr11:33285200-33308200	Weak transcription	Spleen	Spleen
12	chr11:33285800-33295400	Weak transcription	Brain Hippocampus Middle	brain
13	chr11:33285800-33312800	Weak transcription	Fetal Stomach	stomach
14	chr11:33286000-33296000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr11:33286000-33308200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr11:33286600-33295400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr11:33286600-33296400	Weak transcription	Brain Angular Gyrus	brain
18	chr11:33286800-33299000	Weak transcription	Brain Anterior Caudate	brain
19	chr11:33288200-33295200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr11:33288600-33296800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr11:33288600-33308000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:33288800-33298400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr11:33288800-33298800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr11:33288800-33308000	Weak transcription	Dnd41	blood
25	chr11:33289000-33308000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr11:33289000-33312600	Weak transcription	Aorta	Aorta
27	chr11:33289200-33298400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr11:33289600-33300600	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr11:33289800-33295200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr11:33290000-33336800	Weak transcription	Lung	lung
31	chr11:33290800-33297800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr11:33290800-33298400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:33290800-33307400	Weak transcription	Right Atrium	heart
34	chr11:33291000-33295200	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr11:33291000-33295400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:33291000-33295400	Weak transcription	Fetal Heart	heart
37	chr11:33291000-33295400	Weak transcription	HepG2	liver
38	chr11:33291000-33295600	Weak transcription	NHEK	skin
39	chr11:33291000-33295600	Weak transcription	Osteobl	bone
40	chr11:33291000-33308200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:33291000-33308200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr11:33291400-33295400	Weak transcription	Brain Substantia Nigra	brain
43	chr11:33291400-33308000	Weak transcription	NHDF-Ad	bronchial
44	chr11:33291600-33295000	Enhancers	Left Ventricle	heart
45	chr11:33291600-33295400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr11:33291600-33308000	Weak transcription	HSMM	muscle
47	chr11:33291800-33295400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:33291800-33295400	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr11:33291800-33295400	Weak transcription	Rectal Smooth Muscle	rectum
50	chr11:33291800-33295600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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