Variant report

Variant	nsv555618
Chromosome Location	chr11:84455359-84494896
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:8)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:84470491..84472543-chr11:84477634..84479392,2	MCF-7	breast:
2	chr11:84494003..84496842-chr11:85300062..85301679,2	MCF-7	breast:
3	chr11:84268874..84269428-chr11:84491493..84492369,2	MCF-7	breast:
4	chr11:84491891..84492728-chr11:84673979..84674886,2	MCF-7	breast:
5	chr11:84491046..84493285-chr11:84497010..84499873,2	MCF-7	breast:
6	chr11:84492333..84495051-chr11:84901283..84903076,2	MCF-7	breast:
7	chr11:84470491..84472543-chr11:84477634..84479392,2	MCF-7	breast:
8	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	chr11:84474333-84474398	ENSG00000254787.1
2	lnc-TMEM126B-2	chr11:84473154-84473211	ENSG00000254787.1

No data

Extended variants
information (count: 1022 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1022 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6592199	chr11:84455359-84455360	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7127882	chr11:84455413-84455414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533665355	chr11:84455416-84455417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs117185421	chr11:84455460-84455461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370551712	chr11:84455508-84455509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574695136	chr11:84455512-84455513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535737713	chr11:84455542-84455543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200811106	chr11:84455545-84455546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530127519	chr11:84455570-84455571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548608978	chr11:84455610-84455611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557266865	chr11:84455612-84455613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182306671	chr11:84455626-84455627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140851732	chr11:84455670-84455671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537772805	chr11:84455684-84455685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs367582814	chr11:84455699-84455700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552917739	chr11:84455729-84455730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573250430	chr11:84455733-84455734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540376811	chr11:84455753-84455754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114133811	chr11:84455771-84455772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6592200	chr11:84455781-84455782	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs550876218	chr11:84455794-84455795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571134042	chr11:84455795-84455796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535225103	chr11:84455796-84455797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188889798	chr11:84455806-84455807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371414837	chr11:84455816-84455817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs193113231	chr11:84455837-84455838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374587421	chr11:84455862-84455863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79939108	chr11:84455882-84455883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149718559	chr11:84455900-84455901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533836191	chr11:84455959-84455960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140738791	chr11:84455963-84455964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185176863	chr11:84455973-84455974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548714495	chr11:84455979-84455980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568299553	chr11:84456025-84456026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188294103	chr11:84456038-84456039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs117756670	chr11:84456045-84456046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs193189504	chr11:84456054-84456055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575366388	chr11:84456069-84456070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183953677	chr11:84456079-84456080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558088061	chr11:84456080-84456081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573205225	chr11:84456089-84456090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540715631	chr11:84456124-84456125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs75599054	chr11:84456128-84456129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145540906	chr11:84456133-84456134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs948888	chr11:84456137-84456138	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs12288510	chr11:84456150-84456151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562687433	chr11:84456157-84456158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188742912	chr11:84456321-84456322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs368929239	chr11:84456323-84456324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs56194640	chr11:84456355-84456356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:84451800-84456400	Weak transcription	Thymus	Thymus
2	chr11:84455200-84456200	Weak transcription	Fetal Thymus	thymus
3	chr11:84455600-84458200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr11:84456200-84460000	Enhancers	Fetal Thymus	thymus
5	chr11:84456400-84460400	Enhancers	Thymus	Thymus
6	chr11:84457800-84459400	Enhancers	Primary T cells from cord blood	blood
7	chr11:84458000-84459800	Enhancers	Dnd41	blood
8	chr11:84458600-84459200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr11:84458600-84460000	Enhancers	Primary hematopoietic stem cells	blood
10	chr11:84458600-84460400	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr11:84458800-84459200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:84458800-84459400	Enhancers	Fetal Heart	heart
13	chr11:84459400-84462400	Weak transcription	Primary T cells from cord blood	blood
14	chr11:84460400-84460800	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr11:84460400-84462600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr11:84461600-84462400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:84462400-84463400	Enhancers	Primary T cells from cord blood	blood
18	chr11:84462600-84463000	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr11:84463000-84465600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr11:84463200-84465600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr11:84465600-84466600	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr11:84469000-84469600	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr11:84471800-84472000	Enhancers	Pancreas	Pancrea
24	chr11:84474400-84474600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:84475200-84475600	Enhancers	Fetal Heart	heart
26	chr11:84480800-84481600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
27	chr11:84484200-84484800	Enhancers	Fetal Heart	heart
28	chr11:84484400-84492000	Weak transcription	Fetal Brain Male	brain
29	chr11:84492000-84492200	Enhancers	Fetal Brain Male	brain
30	chr11:84492000-84495000	Enhancers	Fetal Heart	heart

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