Variant report

Variant	esv3469485
Chromosome Location	chr11:47875263-47877049
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47868432..47872224-chr11:47874279..47876068,4	MCF-7	breast:
2	chr11:47870685..47873439-chr11:47876355..47879304,2	MCF-7	breast:
3	chr11:47875918..47878911-chr11:47889352..47891666,2	MCF-7	breast:
4	chr11:47869337..47872493-chr11:47872959..47875710,4	MCF-7	breast:
5	chr11:47631158..47632846-chr11:47873541..47876421,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000030066	chromatin interactions

Extended variants
information (count: 75 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139599115	chr11:47875277-47875278	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs144121721	chr11:47875284-47875285	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs536778867	chr11:47875292-47875293	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs553298452	chr11:47875293-47875294	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs573178505	chr11:47875296-47875297	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs377022747	chr11:47875299-47875300	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs541277006	chr11:47875385-47875386	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs564235093	chr11:47875393-47875394	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs577558757	chr11:47875398-47875399	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs543211877	chr11:47875399-47875400	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs563170253	chr11:47875403-47875404	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs546344778	chr11:47875407-47875408	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs548649412	chr11:47875415-47875416	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs548383964	chr11:47875418-47875419	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs146483763	chr11:47875419-47875420	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs528077260	chr11:47875423-47875424	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs552010199	chr11:47875448-47875449	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs12279855	chr11:47875462-47875463	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs2009623	chr11:47875465-47875466	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs531276662	chr11:47875471-47875472	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs58373043	chr11:47875480-47875481	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs191779163	chr11:47875483-47875484	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs184899436	chr11:47875491-47875492	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs536724040	chr11:47875500-47875501	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs188605060	chr11:47875517-47875518	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs566820622	chr11:47875522-47875523	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs538648844	chr11:47875541-47875542	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs140808372	chr11:47875554-47875555	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs577494531	chr11:47875606-47875607	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs558046837	chr11:47875617-47875618	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs12293210	chr11:47875631-47875632	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs113434355	chr11:47875674-47875675	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs556700942	chr11:47875684-47875685	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs566904304	chr11:47875697-47875698	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs542658263	chr11:47875715-47875716	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs543903092	chr11:47875722-47875723	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs555799918	chr11:47875723-47875724	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs2170815	chr11:47875910-47875911	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs567975183	chr11:47875916-47875917	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs370568581	chr11:47876030-47876031	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs536524106	chr11:47876036-47876037	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs541428241	chr11:47876044-47876045	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs114504852	chr11:47876103-47876104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564899973	chr11:47876123-47876124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs373371992	chr11:47876224-47876225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531197640	chr11:47876232-47876233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs397775056	chr11:47876238-47876239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs75690916	chr11:47876240-47876241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192938129	chr11:47876253-47876254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567813074	chr11:47876347-47876348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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	22581003	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47870600-47877400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:47870600-47879600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr11:47870600-47885400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:47870800-47877600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:47870800-47877800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr11:47870800-47877800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:47870800-47879200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr11:47870800-47879800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:47870800-47889400	Enhancers	Primary B cells from peripheral blood	blood
10	chr11:47871000-47877600	Weak transcription	K562	blood
11	chr11:47871000-47883200	Weak transcription	NHDF-Ad	bronchial
12	chr11:47871200-47877800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:47872200-47877600	Enhancers	Primary B cells from cord blood	blood
14	chr11:47872200-47884000	Weak transcription	Thymus	Thymus
15	chr11:47872400-47879400	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr11:47872800-47879000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:47872800-47881200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr11:47873000-47883400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr11:47873000-47884600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr11:47873200-47876000	Enhancers	A549	lung
21	chr11:47873200-47877600	Enhancers	Hela-S3	cervix
22	chr11:47873200-47879600	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr11:47873200-47880600	Weak transcription	Primary T cells from cord blood	blood
24	chr11:47873400-47883200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr11:47873600-47879200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr11:47874800-47875400	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr11:47874800-47875400	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr11:47874800-47875600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr11:47875000-47875400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr11:47875200-47875400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr11:47875200-47875400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:47875200-47875400	Enhancers	Duodenum Mucosa	Duodenum
33	chr11:47875200-47875400	Enhancers	Fetal Kidney	kidney
34	chr11:47875200-47875400	Enhancers	Fetal Thymus	thymus
35	chr11:47875200-47875400	Flanking Active TSS	GM12878-XiMat	blood
36	chr11:47875200-47875600	Flanking Active TSS	Placenta	Placenta
37	chr11:47875200-47875600	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr11:47875200-47875800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr11:47875200-47875800	Enhancers	Colonic Mucosa	Colon
40	chr11:47875200-47876600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr11:47875200-47878800	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr11:47875200-47880600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr11:47875400-47876000	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr11:47875400-47879000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr11:47875400-47879000	Enhancers	GM12878-XiMat	blood
46	chr11:47875400-47879200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr11:47875400-47881200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr11:47875400-47884600	Weak transcription	Duodenum Mucosa	Duodenum
49	chr11:47875600-47875800	Enhancers	Placenta	Placenta
50	chr11:47875600-47879200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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