Variant report

Variant	esv996050
Chromosome Location	chr11:45426481-45436633
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:45434026..45435982-chr11:45444753..45447322,2	K562	blood:
2	chr11:45435401..45438353-chr11:45439674..45442968,4	K562	blood:
3	chr11:45427597..45428482-chr11:45792562..45793604,3	MCF-7	breast:
4	chr11:45392504..45393419-chr11:45427914..45428464,2	MCF-7	breast:
5	chr11:45427988..45430237-chr11:45431939..45433599,2	K562	blood:
6	chr11:45427988..45430237-chr11:45431939..45433599,2	K562	blood:
7	chr11:45427814..45428397-chr11:45676543..45677286,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000205106	chromatin interactions
ENSG00000255267	chromatin interactions

Extended variants
information (count: 365 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:365 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549903746	chr11:45426483-45426484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534361236	chr11:45426492-45426493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535332626	chr11:45426546-45426547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555278089	chr11:45426630-45426631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141765674	chr11:45426631-45426632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150510189	chr11:45426633-45426634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73456039	chr11:45426640-45426641	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs543957282	chr11:45426658-45426659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185429085	chr11:45426661-45426662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543573941	chr11:45426672-45426673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139487241	chr11:45426764-45426765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188268936	chr11:45426770-45426771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4755983	chr11:45426785-45426786	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs560133946	chr11:45426823-45426824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144190575	chr11:45426855-45426856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540982521	chr11:45426920-45426921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs35072015	chr11:45426928-45426929	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs533020934	chr11:45426943-45426944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549626956	chr11:45426954-45426955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563127511	chr11:45426955-45426956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182049136	chr11:45426981-45426982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548863923	chr11:45426995-45426996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565596812	chr11:45427037-45427038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374271952	chr11:45427058-45427059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76068463	chr11:45427091-45427092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372639221	chr11:45427112-45427113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147386213	chr11:45427173-45427174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187218376	chr11:45427208-45427209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557516102	chr11:45427229-45427230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115323249	chr11:45427232-45427233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369391725	chr11:45427309-45427310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536886028	chr11:45427345-45427346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139530647	chr11:45427402-45427403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569681530	chr11:45427407-45427408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545120973	chr11:45427423-45427424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144839871	chr11:45427426-45427427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191590406	chr11:45427455-45427456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368753870	chr11:45427479-45427480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543483538	chr11:45427484-45427485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75725349	chr11:45427550-45427551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183547102	chr11:45427561-45427562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73456042	chr11:45427615-45427616	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs548720369	chr11:45427616-45427617	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs377354580	chr11:45427644-45427645	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs559144281	chr11:45427682-45427683	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs73456045	chr11:45427724-45427725	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs80165635	chr11:45427726-45427727	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs145793720	chr11:45427765-45427766	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs537095232	chr11:45427780-45427781	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs551082948	chr11:45427801-45427802	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	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:176 , 50 per page) page: 1 2 3 4

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	chr11:45422000-45428200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:45422000-45428800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:45422000-45431600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:45423800-45428800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:45423800-45431400	Weak transcription	HSMM	muscle
8	chr11:45425000-45431400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:45427600-45428000	Enhancers	Liver	Liver
10	chr11:45427600-45428000	Enhancers	HepG2	liver
11	chr11:45428000-45428400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr11:45428200-45429000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr11:45428200-45429000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr11:45428200-45429200	Enhancers	H1 Cell Line	embryonic stem cell
15	chr11:45428200-45429800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:45428600-45429000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:45428600-45429000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr11:45428600-45429000	Active TSS	Spleen	Spleen
19	chr11:45428800-45429200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr11:45428800-45429200	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr11:45428800-45429200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:45428800-45429400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:45428800-45429400	Enhancers	Fetal Thymus	thymus
24	chr11:45428800-45429800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:45429000-45431200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr11:45429000-45431600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr11:45429000-45432000	Weak transcription	Spleen	Spleen
28	chr11:45429200-45430600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:45429200-45431600	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr11:45429200-45431800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr11:45429400-45431600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr11:45429800-45430800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:45429800-45431600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr11:45430600-45430800	Bivalent Enhancer	Fetal Kidney	kidney
35	chr11:45430600-45435800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:45430800-45431000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:45430800-45434800	Enhancers	H1 Cell Line	embryonic stem cell
38	chr11:45431000-45431400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr11:45431000-45432200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
40	chr11:45431000-45433600	Enhancers	NH-A	brain
41	chr11:45431000-45434400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr11:45431000-45434600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr11:45431200-45431400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:45431200-45432200	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr11:45431200-45434400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr11:45431400-45431600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr11:45431400-45431600	Enhancers	HSMM	muscle
48	chr11:45431400-45431800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr11:45431400-45432000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
50	chr11:45431400-45432200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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