Variant report

Variant	nsv1041726
Chromosome Location	chr11:84443285-84507767
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:84491046..84493285-chr11:84497010..84499873,2	MCF-7	breast:
2	chr11:84470491..84472543-chr11:84477634..84479392,2	MCF-7	breast:
3	chr11:84494003..84496842-chr11:85300062..85301679,2	MCF-7	breast:
4	chr11:84268874..84269428-chr11:84491493..84492369,2	MCF-7	breast:
5	chr11:84470491..84472543-chr11:84477634..84479392,2	MCF-7	breast:
6	chr11:84491046..84493285-chr11:84497010..84499873,2	MCF-7	breast:
7	chr11:84492333..84495051-chr11:84901283..84903076,2	MCF-7	breast:
8	chr11:84491891..84492728-chr11:84673979..84674886,2	MCF-7	breast:
9	chr11:84269079..84271717-chr11:84447544..84450102,2	MCF-7	breast:
10	chr11:84491944..84492445-chr11:85301546..85302502,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM126B-2	chr11:84473154-84473211	ENSG00000254787.1
2	lnc-TMEM126B-2	chr11:84474333-84474398	ENSG00000254787.1

No data

Extended variants
information (count: 1411 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1411 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371692232	chr11:84451410-84451411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs112814331	chr11:84451427-84451428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376400677	chr11:84451471-84451472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566957753	chr11:84451503-84451504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534454559	chr11:84451529-84451530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555832932	chr11:84451564-84451565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370923351	chr11:84451612-84451613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185143756	chr11:84451615-84451616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190785786	chr11:84451628-84451629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs140962090	chr11:84451633-84451634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574887484	chr11:84451639-84451640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183164714	chr11:84451641-84451642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370615815	chr11:84451644-84451645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560246638	chr11:84451706-84451707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572195067	chr11:84451767-84451768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs57368957	chr11:84451780-84451781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561064589	chr11:84451859-84451860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531189880	chr11:84451866-84451867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78691446	chr11:84451881-84451882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186407180	chr11:84451896-84451897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532034887	chr11:84451922-84451923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547177997	chr11:84451925-84451926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553925435	chr11:84451973-84451974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs117323366	chr11:84451984-84451985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527919568	chr11:84451993-84451994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549635912	chr11:84452032-84452033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144989802	chr11:84452040-84452041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191812752	chr11:84452041-84452042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77127497	chr11:84452064-84452065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11491029	chr11:84452095-84452096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374290635	chr11:84452099-84452100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571671927	chr11:84452171-84452172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539120505	chr11:84452179-84452180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554015352	chr11:84452234-84452235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572192481	chr11:84452272-84452273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567839682	chr11:84452338-84452339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374585272	chr11:84452344-84452345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542488620	chr11:84452378-84452379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138790419	chr11:84452379-84452380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575895553	chr11:84452397-84452398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12802769	chr11:84452399-84452400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543319596	chr11:84452401-84452402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564491634	chr11:84452408-84452409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532056021	chr11:84452485-84452486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541111001	chr11:84452489-84452490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4537781	chr11:84452511-84452512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536895809	chr11:84452546-84452547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146117489	chr11:84452547-84452548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201495584	chr11:84452548-84452549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115294455	chr11:84452552-84452553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	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
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	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
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	20844748	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Colorectal cancer	16912164	CNVD
Mental retardation	17847001	CNVD
Melanoma	19509136	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Cancer	20164920	CNVD
Obesity	20622171	CNVD
Breast cancer	22522925	CNVD
Developmental delay	21147756	CNVD
Bipolar disorder	19114987	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	17142309	CNVD
Cancer	20164919	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:84451400-84451800	Enhancers	Thymus	Thymus
2	chr11:84451600-84451800	Enhancers	Fetal Thymus	thymus
3	chr11:84451800-84454800	Weak transcription	Fetal Thymus	thymus
4	chr11:84451800-84456400	Weak transcription	Thymus	Thymus
5	chr11:84454800-84455200	Enhancers	Fetal Thymus	thymus
6	chr11:84455200-84456200	Weak transcription	Fetal Thymus	thymus
7	chr11:84455600-84458200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr11:84456200-84460000	Enhancers	Fetal Thymus	thymus
9	chr11:84456400-84460400	Enhancers	Thymus	Thymus
10	chr11:84457800-84459400	Enhancers	Primary T cells from cord blood	blood
11	chr11:84458000-84459800	Enhancers	Dnd41	blood
12	chr11:84458600-84459200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:84458600-84460000	Enhancers	Primary hematopoietic stem cells	blood
14	chr11:84458600-84460400	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr11:84458800-84459200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:84458800-84459400	Enhancers	Fetal Heart	heart
17	chr11:84459400-84462400	Weak transcription	Primary T cells from cord blood	blood
18	chr11:84460400-84460800	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr11:84460400-84462600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr11:84461600-84462400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:84462400-84463400	Enhancers	Primary T cells from cord blood	blood
22	chr11:84462600-84463000	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr11:84463000-84465600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr11:84463200-84465600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr11:84465600-84466600	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr11:84469000-84469600	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr11:84471800-84472000	Enhancers	Pancreas	Pancrea
28	chr11:84474400-84474600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:84475200-84475600	Enhancers	Fetal Heart	heart
30	chr11:84480800-84481600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
31	chr11:84484200-84484800	Enhancers	Fetal Heart	heart
32	chr11:84484400-84492000	Weak transcription	Fetal Brain Male	brain
33	chr11:84492000-84492200	Enhancers	Fetal Brain Male	brain
34	chr11:84492000-84495000	Enhancers	Fetal Heart	heart
35	chr11:84497600-84498200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:84503600-84504800	Enhancers	Fetal Heart	heart
37	chr11:84503800-84505400	Weak transcription	Fetal Stomach	stomach
38	chr11:84504400-84504600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr11:84504600-84504800	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr11:84504800-84505200	Flanking Active TSS	Fetal Heart	heart
41	chr11:84505200-84506400	Enhancers	Fetal Heart	heart
42	chr11:84505400-84506000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:84505400-84506600	Strong transcription	Fetal Stomach	stomach
44	chr11:84505600-84506400	Enhancers	Right Ventricle	heart
45	chr11:84505800-84507200	Enhancers	Thymus	Thymus
46	chr11:84506400-84506800	Weak transcription	Right Ventricle	heart
47	chr11:84506400-84511800	Weak transcription	Fetal Heart	heart
48	chr11:84506600-84510000	Weak transcription	Fetal Stomach	stomach
49	chr11:84506800-84507200	Enhancers	Right Ventricle	heart

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