Variant report

Variant	esv3406887
Chromosome Location	chr11:47656228-47657146
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47655561..47657543-chr11:47662606..47665556,2	K562	blood:
2	chr11:47648151..47655137-chr11:47656071..47661932,11	K562	blood:
3	chr11:47654513..47656961-chr11:47662854..47665133,2	MCF-7	breast:
4	chr11:47652437..47655137-chr11:47656639..47658574,2	K562	blood:
5	chr11:47655594..47657226-chr11:47658278..47659810,2	K562	blood:

Variant related genes	Relation type
ENSG00000109919	chromatin interactions

Extended variants
information (count: 50 )
Associated
traits (count: 59 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75020795	chr11:47656236-47656237	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs58513409	chr11:47656240-47656241	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs79589707	chr11:47656266-47656267	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs202037970	chr11:47656268-47656269	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs191499924	chr11:47656276-47656277	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs201577282	chr11:47656293-47656294	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs200746903	chr11:47656301-47656302	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs369366876	chr11:47656320-47656321	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs182179975	chr11:47656321-47656322	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs545408211	chr11:47656323-47656324	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs559190912	chr11:47656360-47656361	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs575495521	chr11:47656363-47656364	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs544218926	chr11:47656394-47656395	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs182522402	chr11:47656420-47656421	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs12275679	chr11:47656498-47656499	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs530141571	chr11:47656513-47656514	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs138024632	chr11:47656514-47656515	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs149549477	chr11:47656545-47656546	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs528267626	chr11:47656547-47656548	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs528136231	chr11:47656564-47656565	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs551421015	chr11:47656577-47656578	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs377184999	chr11:47656600-47656601	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs530779667	chr11:47656619-47656620	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs550605139	chr11:47656620-47656621	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs551067695	chr11:47656625-47656626	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs143181452	chr11:47656634-47656635	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs536767690	chr11:47656642-47656643	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs187172881	chr11:47656650-47656651	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs7109012	chr11:47656663-47656664	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs193083882	chr11:47656677-47656678	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs371651469	chr11:47656678-47656679	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs539240261	chr11:47656692-47656693	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs138889379	chr11:47656799-47656800	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs575533591	chr11:47656817-47656818	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs374588913	chr11:47656820-47656821	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs12422057	chr11:47656911-47656912	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs376713238	chr11:47656922-47656923	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs76848013	chr11:47656926-47656927	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs372241694	chr11:47656929-47656930	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs142700803	chr11:47656944-47656945	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs567524730	chr11:47656945-47656946	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs185269423	chr11:47656967-47656968	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs190513111	chr11:47656973-47656974	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs532466325	chr11:47656974-47656975	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs545191180	chr11:47656981-47656982	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs572564014	chr11:47657017-47657018	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs369473982	chr11:47657073-47657074	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs373052204	chr11:47657084-47657085	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs558556021	chr11:47657101-47657102	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs565033167	chr11:47657140-47657141	Weak transcription Strong 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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47636600-47661400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr11:47637600-47657200	Strong transcription	Primary B cells from peripheral blood	blood
3	chr11:47637600-47660800	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr11:47637600-47661200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:47637600-47663200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr11:47637800-47660400	Strong transcription	Sigmoid Colon	Sigmoid Colon
7	chr11:47637800-47661000	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr11:47637800-47661000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr11:47638000-47661400	Strong transcription	Fetal Thymus	thymus
10	chr11:47638000-47661800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:47638200-47661200	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr11:47638200-47661200	Strong transcription	Stomach Smooth Muscle	stomach
13	chr11:47638200-47661600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:47638200-47661600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:47638400-47660400	Strong transcription	Dnd41	blood
16	chr11:47638400-47661200	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr11:47638600-47657200	Strong transcription	Skeletal Muscle Female	skeletal muscle
18	chr11:47638800-47661600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr11:47639000-47658000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr11:47639000-47661200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:47639000-47661400	Strong transcription	Fetal Muscle Leg	muscle
22	chr11:47639000-47662600	Weak transcription	Stomach Mucosa	stomach
23	chr11:47639200-47657600	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr11:47639600-47661200	Strong transcription	Fetal Muscle Trunk	muscle
25	chr11:47639800-47657600	Strong transcription	Duodenum Smooth Muscle	Duodenum
26	chr11:47640000-47661000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:47640200-47661200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr11:47640200-47661200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr11:47640200-47661200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr11:47640600-47661400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr11:47640800-47661400	Strong transcription	Fetal Intestine Small	intestine
32	chr11:47640800-47661400	Strong transcription	Fetal Stomach	stomach
33	chr11:47641800-47657600	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr11:47641800-47657600	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr11:47641800-47659200	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr11:47641800-47661200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr11:47641800-47661600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:47642000-47661400	Strong transcription	Placenta	Placenta
39	chr11:47642000-47661800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr11:47643400-47661200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr11:47644000-47661600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:47645000-47657200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr11:47646800-47657800	Strong transcription	HUVEC	blood vessel
44	chr11:47646800-47662600	Weak transcription	Aorta	Aorta
45	chr11:47647200-47657200	Strong transcription	NHEK	skin
46	chr11:47648200-47662800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr11:47648200-47663200	Weak transcription	Gastric	stomach
48	chr11:47648400-47656600	Weak transcription	Right Ventricle	heart
49	chr11:47648400-47662800	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr11:47649200-47662600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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