Variant report

Variant	esv3498888
Chromosome Location	chr11:45429759-45431655
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:45427988..45430237-chr11:45431939..45433599,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562719491	chr11:45429761-45429762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs531830115	chr11:45429774-45429775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185428465	chr11:45429785-45429786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568372778	chr11:45429790-45429791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376435655	chr11:45429849-45429850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200696578	chr11:45429850-45429851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534222927	chr11:45429865-45429866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116344857	chr11:45429866-45429867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546252435	chr11:45429867-45429868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370326381	chr11:45429912-45429913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538341760	chr11:45429939-45429940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558649832	chr11:45429951-45429952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75864615	chr11:45430218-45430219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189905710	chr11:45430262-45430263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12418796	chr11:45430297-45430298	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs138009453	chr11:45430314-45430315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540534786	chr11:45430333-45430334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536890274	chr11:45430340-45430341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560270965	chr11:45430377-45430378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535968487	chr11:45430411-45430412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149509111	chr11:45430491-45430492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191946168	chr11:45430628-45430629	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs562680467	chr11:45430675-45430676	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs117222282	chr11:45430767-45430768	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs61027278	chr11:45430785-45430786	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs561965460	chr11:45430796-45430797	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs143206014	chr11:45430802-45430803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548105722	chr11:45430828-45430829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs80002508	chr11:45430845-45430846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538677634	chr11:45430867-45430868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573463532	chr11:45430869-45430870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184135731	chr11:45430890-45430891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545350800	chr11:45430914-45430915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs116167337	chr11:45430915-45430916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs578170620	chr11:45430983-45430984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs115217417	chr11:45431009-45431010	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs565155760	chr11:45431022-45431023	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs554778257	chr11:45431029-45431030	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs141618953	chr11:45431070-45431071	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs188319028	chr11:45431110-45431111	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs180682042	chr11:45431161-45431162	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs138907053	chr11:45431199-45431200	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs142710743	chr11:45431343-45431344	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs187303277	chr11:45431456-45431457	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs545306717	chr11:45431478-45431479	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs575710653	chr11:45431494-45431495	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs190486850	chr11:45431620-45431621	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541937094	chr11:45431630-45431631	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561932004	chr11:45431631-45431632	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527916276	chr11:45431632-45431633	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	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

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45405400-45434800	Weak transcription	Right Atrium	heart
2	chr11:45421800-45431600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:45422000-45431600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:45423800-45431400	Weak transcription	HSMM	muscle
5	chr11:45425000-45431400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:45428200-45429800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:45428800-45429800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:45429000-45431200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr11:45429000-45431600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr11:45429000-45432000	Weak transcription	Spleen	Spleen
11	chr11:45429200-45430600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:45429200-45431600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr11:45429200-45431800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:45429400-45431600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:45429800-45430800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:45429800-45431600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:45430600-45430800	Bivalent Enhancer	Fetal Kidney	kidney
18	chr11:45430600-45435800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:45430800-45431000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:45430800-45434800	Enhancers	H1 Cell Line	embryonic stem cell
21	chr11:45431000-45431400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:45431000-45432200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
23	chr11:45431000-45433600	Enhancers	NH-A	brain
24	chr11:45431000-45434400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:45431000-45434600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:45431200-45431400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:45431200-45432200	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr11:45431200-45434400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr11:45431400-45431600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr11:45431400-45431600	Enhancers	HSMM	muscle
31	chr11:45431400-45431800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:45431400-45432000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
33	chr11:45431400-45432200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:45431400-45432600	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr11:45431400-45432800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:45431400-45434200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:45431600-45432000	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr11:45431600-45432000	Weak transcription	HSMM	muscle
39	chr11:45431600-45432400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr11:45431600-45432600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr11:45431600-45432600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr11:45431600-45433400	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr11:45431600-45434000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr11:45431600-45434800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr11:45431600-45434800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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