Variant report

Variant	esv3327776
Chromosome Location	chr11:47760726-47764324
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47760881..47762523-chr11:47771591..47773857,2	MCF-7	breast:
2	chr11:47755812..47757331-chr11:47760364..47762579,2	K562	blood:
3	chr11:47763527..47765292-chr11:47787752..47790072,2	MCF-7	breast:
4	chr11:47762237..47764524-chr11:47788611..47790131,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109920	chromatin interactions

Extended variants
information (count: 174 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:174 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10769293	chr11:47760768-47760769	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186229033	chr11:47760778-47760779	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11039361	chr11:47760810-47760811	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs548229653	chr11:47760883-47760884	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576700842	chr11:47760899-47760900	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368409773	chr11:47760981-47760982	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140884902	chr11:47760999-47761000	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532279528	chr11:47761048-47761049	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543981609	chr11:47761056-47761057	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547460607	chr11:47761073-47761074	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145822845	chr11:47761089-47761090	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138409547	chr11:47761105-47761106	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535942805	chr11:47761117-47761118	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548721345	chr11:47761140-47761141	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs117655767	chr11:47761210-47761211	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375874271	chr11:47761219-47761220	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115274936	chr11:47761242-47761243	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141469318	chr11:47761243-47761244	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539971012	chr11:47761267-47761268	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369103800	chr11:47761352-47761353	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539999200	chr11:47761455-47761456	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576442397	chr11:47761456-47761457	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11602339	chr11:47761471-47761472	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs561107292	chr11:47761492-47761493	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201774028	chr11:47761509-47761510	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568588400	chr11:47761513-47761514	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368847272	chr11:47761514-47761515	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570633980	chr11:47761516-47761517	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371485064	chr11:47761524-47761525	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574812207	chr11:47761539-47761540	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570028481	chr11:47761554-47761555	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138918813	chr11:47761571-47761572	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560230382	chr11:47761585-47761586	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566449219	chr11:47761586-47761587	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10838756	chr11:47761598-47761599	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs562451076	chr11:47761599-47761600	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572070302	chr11:47761621-47761622	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376830116	chr11:47761625-47761626	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375695652	chr11:47761648-47761649	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149354937	chr11:47761693-47761694	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369288568	chr11:47761720-47761721	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534264733	chr11:47761723-47761724	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191473746	chr11:47761737-47761738	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183252281	chr11:47761741-47761742	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570764866	chr11:47761757-47761758	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117999110	chr11:47761761-47761762	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556488635	chr11:47761768-47761769	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576482694	chr11:47761778-47761779	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368642193	chr11:47761795-47761796	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144670504	chr11:47761826-47761827	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	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
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20699438	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:179 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47737000-47786200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr11:47737200-47779800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:47737600-47779200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:47737800-47767400	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr11:47737800-47776400	Strong transcription	Primary T helper cells PMA-I stimulated	--
6	chr11:47737800-47776600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr11:47737800-47776600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr11:47737800-47777200	Strong transcription	NH-A	brain
9	chr11:47737800-47782800	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr11:47737800-47785800	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr11:47737800-47786000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:47737800-47786200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:47737800-47786200	Strong transcription	Muscle Satellite Cultured Cells	--
14	chr11:47737800-47786400	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr11:47737800-47786400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr11:47737800-47786400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:47737800-47786400	Strong transcription	Fetal Thymus	thymus
18	chr11:47737800-47786800	Strong transcription	Placenta	Placenta
19	chr11:47738000-47763800	Strong transcription	NHDF-Ad	bronchial
20	chr11:47738000-47776200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr11:47738000-47776200	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr11:47738000-47776400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:47738000-47776600	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr11:47738000-47786200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr11:47738000-47786400	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr11:47738000-47786400	Strong transcription	Primary B cells from peripheral blood	blood
27	chr11:47738000-47786800	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr11:47738200-47776200	Strong transcription	Fetal Muscle Trunk	muscle
29	chr11:47738200-47776600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr11:47738200-47779000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr11:47738200-47786400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr11:47738400-47776600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr11:47738400-47786200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:47738600-47785800	Strong transcription	Dnd41	blood
35	chr11:47739800-47776800	Strong transcription	Thymus	Thymus
36	chr11:47742800-47776400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr11:47742800-47776400	Strong transcription	Stomach Smooth Muscle	stomach
38	chr11:47743000-47776400	Strong transcription	Skeletal Muscle Male	skeletal muscle
39	chr11:47743800-47776200	Strong transcription	Primary T cells from cord blood	blood
40	chr11:47746000-47777600	Strong transcription	Fetal Muscle Leg	muscle
41	chr11:47746200-47776200	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr11:47746200-47776400	Strong transcription	Duodenum Mucosa	Duodenum
43	chr11:47746200-47776800	Strong transcription	Left Ventricle	heart
44	chr11:47746200-47778200	Strong transcription	Osteobl	bone
45	chr11:47746200-47786000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr11:47746400-47765000	Weak transcription	Stomach Mucosa	stomach
47	chr11:47746400-47786200	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr11:47746800-47776000	Strong transcription	Hela-S3	cervix
49	chr11:47747400-47786200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr11:47747600-47786400	Strong transcription	Fetal Intestine Large	intestine

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