Variant report

Variant	esv3469419
Chromosome Location	chr11:47761757-47763356
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	chr11:47762237..47764524-chr11:47788611..47790131,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109920	chromatin interactions

Extended variants
information (count: 92 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570764866	chr11:47761757-47761758	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs117999110	chr11:47761761-47761762	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556488635	chr11:47761768-47761769	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576482694	chr11:47761778-47761779	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368642193	chr11:47761795-47761796	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144670504	chr11:47761826-47761827	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186975984	chr11:47761840-47761841	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574675243	chr11:47761863-47761864	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540578873	chr11:47761881-47761882	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138418452	chr11:47761940-47761941	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577165726	chr11:47761953-47761954	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553600971	chr11:47761958-47761959	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190830934	chr11:47761977-47761978	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183344290	chr11:47761988-47761989	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147621021	chr11:47761993-47761994	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112883559	chr11:47762022-47762023	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562485158	chr11:47762050-47762051	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372924461	chr11:47762075-47762076	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369714124	chr11:47762092-47762093	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188039601	chr11:47762111-47762112	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377119032	chr11:47762138-47762139	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548261040	chr11:47762142-47762143	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs36005884	chr11:47762152-47762153	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs397705067	chr11:47762161-47762162	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75820190	chr11:47762165-47762166	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527882624	chr11:47762181-47762182	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547545475	chr11:47762184-47762185	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200605437	chr11:47762185-47762186	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533649560	chr11:47762191-47762192	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549934110	chr11:47762192-47762193	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191341341	chr11:47762225-47762226	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535615443	chr11:47762280-47762281	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs576407192	chr11:47762296-47762297	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs542103700	chr11:47762298-47762299	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs566130047	chr11:47762299-47762300	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs113431617	chr11:47762328-47762329	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs374887536	chr11:47762335-47762336	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs553973078	chr11:47762363-47762364	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs182938155	chr11:47762385-47762386	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs546065298	chr11:47762418-47762419	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs187849731	chr11:47762439-47762440	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs192933647	chr11:47762440-47762441	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs184955970	chr11:47762443-47762444	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs541380161	chr11:47762451-47762452	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs561456328	chr11:47762453-47762454	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs527351528	chr11:47762477-47762478	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs147203932	chr11:47762487-47762488	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs564319700	chr11:47762494-47762495	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs557505334	chr11:47762514-47762515	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs200079734	chr11:47762525-47762526	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	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:145 , 50 per page) page: 1 2 3

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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