Variant report

Variant	esv2752810
Chromosome Location	chr11:84473427-84511666
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:14)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:84492333..84495051-chr11:84901283..84903076,2	MCF-7	breast:
2	chr11:84511529..84512428-chr11:84891320..84891992,2	MCF-7	breast:
3	chr11:84491891..84492728-chr11:84673979..84674886,2	MCF-7	breast:
4	chr11:84511565..84512221-chr11:85301607..85302438,2	MCF-7	breast:
5	chr11:84510123..84510756-chr9:110818697..110819229,2	MCF-7	breast:
6	chr11:84491944..84492445-chr11:85301546..85302502,2	MCF-7	breast:
7	chr11:84511526..84512253-chr11:84704190..84705142,4	MCF-7	breast:
8	chr11:84491046..84493285-chr11:84497010..84499873,2	MCF-7	breast:
9	chr11:84268874..84269428-chr11:84491493..84492369,2	MCF-7	breast:
10	chr11:84511571..84512337-chr11:84793091..84793705,2	MCF-7	breast:
11	chr11:84470491..84472543-chr11:84477634..84479392,2	MCF-7	breast:
12	chr11:84494003..84496842-chr11:85300062..85301679,2	MCF-7	breast:
13	chr11:84511513..84512396-chr11:85301539..85302262,2	MCF-7	breast:
14	chr11:84491046..84493285-chr11:84497010..84499873,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM126B-2	chr11:84511574-84511744	ENSG00000254787.1
2	lnc-TMEM126B-2	chr11:84474333-84474398	ENSG00000254787.1

No data

Extended variants
information (count: 857 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:857 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555609498	chr11:84474337-84474338	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs61899051	chr11:84474364-84474365	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs370092813	chr11:84474398-84474399	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs377329119	chr11:84474424-84474425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1943706	chr11:84474461-84474462	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs192527781	chr11:84474467-84474468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149788039	chr11:84474476-84474477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544747990	chr11:84474486-84474487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564508772	chr11:84474492-84474493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs36012754	chr11:84474510-84474511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528713957	chr11:84474516-84474517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184390314	chr11:84474520-84474521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528055782	chr11:84474533-84474534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147461656	chr11:84475290-84475291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112266707	chr11:84475300-84475301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs375888452	chr11:84475318-84475319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529601593	chr11:84475348-84475349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs139839637	chr11:84475350-84475351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570282669	chr11:84475390-84475391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs145689866	chr11:84475393-84475394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533335863	chr11:84475402-84475403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551500771	chr11:84475441-84475442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541181182	chr11:84475465-84475466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1943708	chr11:84475476-84475477	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs372319448	chr11:84475492-84475493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147741227	chr11:84475500-84475501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572530471	chr11:84475519-84475520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537734903	chr11:84475523-84475524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs117927105	chr11:84475544-84475545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554431479	chr11:84475547-84475548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs538586122	chr11:84475550-84475551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553488278	chr11:84475557-84475558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs577666198	chr11:84480823-84480824	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs546839475	chr11:84480828-84480829	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs538399149	chr11:84480840-84480841	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs79727233	chr11:84480851-84480852	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs35211758	chr11:84480868-84480869	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs374836869	chr11:84480881-84480882	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs186858770	chr11:84480885-84480886	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs144063360	chr11:84480893-84480894	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs562327116	chr11:84480899-84480900	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs112103142	chr11:84480904-84480905	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs148767915	chr11:84480935-84480936	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs544609817	chr11:84480977-84480978	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs550280702	chr11:84480990-84480991	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs562789745	chr11:84480996-84480997	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs533443777	chr11:84481002-84481003	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs537048444	chr11:84481015-84481016	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs146452174	chr11:84481062-84481063	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs560651117	chr11:84481095-84481096	ZNF genes & repeats	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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:84474400-84474600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:84475200-84475600	Enhancers	Fetal Heart	heart
3	chr11:84480800-84481600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
4	chr11:84484200-84484800	Enhancers	Fetal Heart	heart
5	chr11:84484400-84492000	Weak transcription	Fetal Brain Male	brain
6	chr11:84492000-84492200	Enhancers	Fetal Brain Male	brain
7	chr11:84492000-84495000	Enhancers	Fetal Heart	heart
8	chr11:84497600-84498200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:84503600-84504800	Enhancers	Fetal Heart	heart
10	chr11:84503800-84505400	Weak transcription	Fetal Stomach	stomach
11	chr11:84504400-84504600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr11:84504600-84504800	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr11:84504800-84505200	Flanking Active TSS	Fetal Heart	heart
14	chr11:84505200-84506400	Enhancers	Fetal Heart	heart
15	chr11:84505400-84506000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:84505400-84506600	Strong transcription	Fetal Stomach	stomach
17	chr11:84505600-84506400	Enhancers	Right Ventricle	heart
18	chr11:84505800-84507200	Enhancers	Thymus	Thymus
19	chr11:84506400-84506800	Weak transcription	Right Ventricle	heart
20	chr11:84506400-84511800	Weak transcription	Fetal Heart	heart
21	chr11:84506600-84510000	Weak transcription	Fetal Stomach	stomach
22	chr11:84506800-84507200	Enhancers	Right Ventricle	heart
23	chr11:84509600-84510600	Enhancers	Fetal Muscle Leg	muscle
24	chr11:84509800-84510200	Enhancers	Fetal Muscle Trunk	muscle
25	chr11:84510000-84510400	Enhancers	Fetal Stomach	stomach

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