Variant report

Variant	esv3497011
Chromosome Location	chr11:104315142-104321890
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	chr11:104321181..104323172-chr11:104324922..104326441,2	K562	blood:
2	chr11:104318241..104320528-chr11:104331933..104333593,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CASP12-1	chr11:104316596-104316740	ENSG00000256422

Extended variants
information (count: 281 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:281 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567845059	chr11:104315193-104315194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185880289	chr11:104315262-104315263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142557001	chr11:104315265-104315266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567077081	chr11:104315348-104315349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs71484360	chr11:104315359-104315360	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs368236421	chr11:104315421-104315422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190355238	chr11:104315461-104315462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182126771	chr11:104315499-104315500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150641349	chr11:104315509-104315510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554976379	chr11:104315536-104315537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574635457	chr11:104315550-104315551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540530585	chr11:104315576-104315577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139731087	chr11:104315616-104315617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs111597396	chr11:104315622-104315623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144695192	chr11:104315623-104315624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs11226364	chr11:104315707-104315708	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs35965666	chr11:104315808-104315809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs71964514	chr11:104315809-104315810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs71467222	chr11:104315827-104315828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs79823329	chr11:104315828-104315829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78696297	chr11:104315833-104315834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs371552338	chr11:104315836-104315837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531336151	chr11:104315863-104315864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188642042	chr11:104315878-104315879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs561761230	chr11:104315970-104315971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs145706387	chr11:104315973-104315974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1487695	chr11:104316004-104316005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs181046532	chr11:104316050-104316051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185080516	chr11:104316090-104316091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369826836	chr11:104316141-104316142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552837982	chr11:104316189-104316190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76341475	chr11:104316207-104316208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140924889	chr11:104316221-104316222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369981550	chr11:104316234-104316235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs191205895	chr11:104316288-104316289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs371769823	chr11:104316293-104316294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs375051141	chr11:104316331-104316332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533818710	chr11:104316336-104316337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553667378	chr11:104316339-104316340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576763529	chr11:104316341-104316342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545574149	chr11:104316342-104316343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562392690	chr11:104316356-104316357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575726635	chr11:104316377-104316378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552772044	chr11:104316380-104316381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573028327	chr11:104316391-104316392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561476893	chr11:104316465-104316466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs13377505	chr11:104316488-104316489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182531061	chr11:104316497-104316498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs142383032	chr11:104316518-104316519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs532883195	chr11:104316519-104316520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104314000-104315600	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr11:104314200-104316000	Enhancers	Fetal Heart	heart
3	chr11:104314400-104315600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr11:104314400-104315600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr11:104314600-104315600	Weak transcription	Fetal Lung	lung
6	chr11:104314600-104323200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:104315000-104316800	Enhancers	Stomach Mucosa	stomach
8	chr11:104315600-104315800	Enhancers	Fetal Lung	lung
9	chr11:104316000-104320200	Weak transcription	Fetal Heart	heart
10	chr11:104316800-104321400	Weak transcription	Stomach Mucosa	stomach
11	chr11:104319400-104320200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr11:104320200-104320600	Enhancers	Fetal Heart	heart
13	chr11:104320200-104322000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:104320600-104320800	Weak transcription	Fetal Heart	heart
15	chr11:104320800-104321800	Enhancers	Fetal Heart	heart
16	chr11:104321400-104322800	Enhancers	Stomach Mucosa	stomach
17	chr11:104321800-104322200	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr11:104321800-104322200	Flanking Active TSS	Fetal Heart	heart

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