Variant report

Variant	esv3330572
Chromosome Location	chr11:104266542-104274390
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:104266914..104269126-chr11:104273371..104275072,3	K562	blood:
2	chr11:104266914..104269126-chr11:104273371..104275072,3	K562	blood:
3	chr11:104258415..104260627-chr11:104273421..104275003,2	K562	blood:

Extended variants
information (count: 224 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:224 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572066777	chr11:104266634-104266635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541765811	chr11:104266643-104266644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34119807	chr11:104266681-104266682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540575310	chr11:104266741-104266742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563746176	chr11:104266748-104266749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574931697	chr11:104266765-104266766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544223186	chr11:104266787-104266788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11602456	chr11:104266788-104266789	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs11226344	chr11:104266841-104266842	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs575526972	chr11:104266864-104266865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79632936	chr11:104266906-104266907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540366135	chr11:104266926-104266927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369465104	chr11:104266933-104266934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368716337	chr11:104266962-104266963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150387360	chr11:104266995-104266996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11600631	chr11:104267039-104267040	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs190461239	chr11:104267099-104267100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs369412650	chr11:104267102-104267103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529515240	chr11:104267124-104267125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs118168693	chr11:104267125-104267126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373117281	chr11:104267154-104267155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs77513901	chr11:104267159-104267160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544395967	chr11:104267161-104267162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563212275	chr11:104267162-104267163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376161549	chr11:104267164-104267165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368083678	chr11:104267207-104267208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs377421751	chr11:104267209-104267210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560466224	chr11:104267245-104267246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10531543	chr11:104267266-104267267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs199869722	chr11:104267271-104267272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs117224957	chr11:104267305-104267306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540713187	chr11:104267317-104267318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs76689455	chr11:104267327-104267328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577199771	chr11:104267328-104267329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11601091	chr11:104267336-104267337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183661172	chr11:104267399-104267400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112330930	chr11:104267443-104267444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs4755029	chr11:104267449-104267450	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs531934931	chr11:104267455-104267456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs11425883	chr11:104267470-104267471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs397973576	chr11:104267472-104267473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs373812309	chr11:104267560-104267561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547499416	chr11:104267598-104267599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs138089419	chr11:104267600-104267601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562153130	chr11:104267617-104267618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs527929128	chr11:104267645-104267646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567234125	chr11:104267747-104267748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs368323719	chr11:104267752-104267753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372328045	chr11:104267753-104267754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs374672389	chr11:104267754-104267755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Melanoma	17363583	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mantle cell lymphoma	19029149	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Obesity	19966786	CNVD
Tetralogy of Fallot	22912587	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104265200-104267000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr11:104265200-104267800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr11:104265400-104266800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr11:104265600-104266600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr11:104266400-104267800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:104266600-104267800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr11:104266800-104267800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr11:104267000-104267400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:104267000-104267600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr11:104267000-104267600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr11:104267400-104271600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr11:104267600-104273200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr11:104267600-104273400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr11:104267800-104273200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr11:104267800-104273200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr11:104267800-104273200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr11:104271600-104272000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr11:104272000-104273400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr11:104272200-104273600	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr11:104273200-104273400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr11:104273200-104273600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr11:104273200-104274000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr11:104273200-104276000	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr11:104273400-104273600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr11:104273400-104273600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr11:104273400-104273600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:104273400-104273800	Enhancers	H1 Cell Line	embryonic stem cell
28	chr11:104273400-104274000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr11:104273400-104274200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr11:104273400-104274400	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr11:104273400-104274400	Enhancers	Stomach Mucosa	stomach
32	chr11:104273400-104275000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:104273600-104273800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr11:104273600-104273800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr11:104273600-104274000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:104273600-104274000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr11:104273600-104274000	Enhancers	NH-A	brain
38	chr11:104273600-104274200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:104273600-104274200	Enhancers	H9 Cell Line	embryonic stem cell
40	chr11:104273600-104274200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:104273600-104274200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr11:104273600-104275200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr11:104273800-104274000	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr11:104273800-104274200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr11:104273800-104274200	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr11:104273800-104274400	Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr11:104273800-104275000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr11:104273800-104275200	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr11:104273800-104275200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr11:104273800-104276000	Enhancers	Fetal Heart	heart

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