Variant report

Variant	nsv555625
Chromosome Location	chr11:84547441-84629013
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:18)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:84611520..84613778-chr11:84615685..84617408,2	MCF-7	breast:
2	chr11:84620550..84623155-chr11:84629095..84630856,2	MCF-7	breast:
3	chr11:84612827..84615559-chr11:84618627..84620812,2	MCF-7	breast:
4	chr11:84567200..84570703-chr11:84574977..84578515,4	MCF-7	breast:
5	chr11:84612827..84615559-chr11:84618627..84620812,2	MCF-7	breast:
6	chr11:84552115..84554820-chr11:84563186..84564917,2	MCF-7	breast:
7	chr11:84546124..84548481-chr11:84550668..84552632,2	MCF-7	breast:
8	chr11:84567200..84570703-chr11:84574977..84578515,4	MCF-7	breast:
9	chr11:84541693..84544292-chr11:84548983..84550682,2	K562	blood:
10	chr11:84546124..84548481-chr11:84550668..84552632,2	MCF-7	breast:
11	chr11:84563887..84565561-chr11:84566594..84569120,2	MCF-7	breast:
12	chr11:84602211..84602764-chr12:93743812..93744346,2	MCF-7	breast:
13	chr11:84611520..84613778-chr11:84615685..84617408,2	MCF-7	breast:
14	chr11:84575601..84576409-chr3:114324860..114325495,2	MCF-7	breast:
15	chr11:84552115..84554820-chr11:84563186..84564917,2	MCF-7	breast:
16	chr11:84563887..84565561-chr11:84566594..84569120,2	MCF-7	breast:
17	chr11:84528411..84530417-chr11:84577098..84579531,2	MCF-7	breast:
18	chr11:84601788..84603295-chr11:84825346..84828031,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM126B-4	chr11:84594424-84595369	NONHSAT023429
2	lnc-TMEM126B-4	chr11:84595375-84600529	NONHSAT023429
3	lnc-TMEM126B-4	chr11:84604034-84604599	NONHSAT023429
4	lnc-TMEM126B-4	chr11:84600536-84604026	NONHSAT023429

No data

Extended variants
information (count: 2716 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:2716 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190000157	chr11:84548204-84548205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571786449	chr11:84548255-84548256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369547960	chr11:84548271-84548272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553136388	chr11:84548327-84548328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561937893	chr11:84548332-84548333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs116332574	chr11:84548388-84548389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550767409	chr11:84548405-84548406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2226856	chr11:84548416-84548417	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs192248000	chr11:84548430-84548431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559763588	chr11:84548523-84548524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1943713	chr11:84548547-84548548	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs566777631	chr11:84548551-84548552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534283536	chr11:84548553-84548554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183532859	chr11:84548567-84548568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567769504	chr11:84548576-84548577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537992256	chr11:84548593-84548594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs11234197	chr11:84548595-84548596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146006977	chr11:84548604-84548605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs139908016	chr11:84548679-84548680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538584814	chr11:84548705-84548706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553727237	chr11:84548716-84548717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188222400	chr11:84548718-84548719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181760496	chr11:84548751-84548752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112459292	chr11:84548784-84548785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560603892	chr11:84548790-84548791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368892629	chr11:84548804-84548805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186276232	chr11:84548815-84548816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs529313733	chr11:84548832-84548833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189976758	chr11:84548840-84548841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs117975229	chr11:84548884-84548885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373273905	chr11:84548921-84548922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551832431	chr11:84548949-84548950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560487506	chr11:84548957-84548958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs527645035	chr11:84548980-84548981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549400103	chr11:84548985-84548986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs567734283	chr11:84548998-84548999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564175037	chr11:84561417-84561418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200329424	chr11:84561419-84561420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369512676	chr11:84561420-84561421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs398076094	chr11:84561421-84561422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532704968	chr11:84561453-84561454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547708598	chr11:84561525-84561526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181745737	chr11:84561573-84561574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536590631	chr11:84561671-84561672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548165760	chr11:84561687-84561688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569671138	chr11:84561735-84561736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562607415	chr11:84561764-84561765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140861828	chr11:84561829-84561830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533201009	chr11:84561832-84561833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186265345	chr11:84561888-84561889	Weak transcription	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:313 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:84548200-84548800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr11:84548400-84549000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:84548400-84549000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:84548400-84549000	Enhancers	NHEK	skin
5	chr11:84561400-84563200	Weak transcription	HSMMtube	muscle
6	chr11:84563200-84563800	Enhancers	HSMMtube	muscle
7	chr11:84563600-84563800	Enhancers	HSMM	muscle
8	chr11:84563800-84564600	Weak transcription	HSMM	muscle
9	chr11:84563800-84564800	Weak transcription	HSMMtube	muscle
10	chr11:84564200-84566600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:84564600-84564800	Enhancers	HSMM	muscle
12	chr11:84564600-84565000	Enhancers	Colon Smooth Muscle	Colon
13	chr11:84564600-84565200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr11:84564600-84569200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:84564600-84569600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:84564800-84565000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr11:84564800-84565200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:84564800-84565600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:84564800-84565600	Weak transcription	HSMM	muscle
20	chr11:84564800-84567600	Enhancers	HSMMtube	muscle
21	chr11:84564800-84569200	Enhancers	NHDF-Ad	bronchial
22	chr11:84565000-84565200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:84565000-84567600	Enhancers	HMEC	breast
24	chr11:84565000-84567600	Enhancers	NHEK	skin
25	chr11:84565000-84568800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr11:84565000-84569200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:84565200-84565600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr11:84565200-84566400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr11:84565200-84571000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr11:84565400-84566600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr11:84565600-84567400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr11:84565600-84567800	Enhancers	HSMM	muscle
33	chr11:84565600-84570800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:84565800-84568000	Enhancers	NH-A	brain
35	chr11:84566000-84567400	Enhancers	Placenta Amnion	Placenta Amnion
36	chr11:84566000-84567800	Enhancers	NHLF	lung
37	chr11:84566000-84568000	Enhancers	Muscle Satellite Cultured Cells	--
38	chr11:84566000-84568200	Enhancers	Osteobl	bone
39	chr11:84566200-84566600	Enhancers	Fetal Heart	heart
40	chr11:84566200-84567200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr11:84566200-84567600	Enhancers	Ovary	ovary
42	chr11:84566400-84567400	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr11:84566600-84567000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr11:84566600-84567400	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr11:84566600-84567400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr11:84566600-84567600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:84566600-84570800	Weak transcription	Fetal Heart	heart
48	chr11:84567000-84567800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:84567200-84567600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr11:84567200-84570600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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