Variant report

Variant	esv3396484
Chromosome Location	chr11:102266975-102267188
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:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:102257797..102259465-chr11:102265476..102267550,2	K562	blood:
2	chr11:102265604..102267237-chr11:102273408..102276073,2	K562	blood:
3	chr11:102266647..102268890-chr11:102271268..102274135,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BIRC2-3	chr11:102267067-102267282	NONHSAT023881

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	TMEM123	hsa-miR-590-3p	chr11:102267083-102267077
2	TMEM123	hsa-miR-590-3p	chr11:102267077-102267097

Extended variants
information (count: 14 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531176039	chr11:102266987-102266988	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75099131	chr11:102266993-102266994	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148333032	chr11:102267062-102267063	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1058606	chr11:102267098-102267099	Weak transcription Strong transcription Enhancers Genic enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs535281753	chr11:102267108-102267109	Weak transcription Strong transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs546638024	chr11:102267109-102267110	Weak transcription Strong transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs188043076	chr11:102267111-102267112	Weak transcription Strong transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs531992525	chr11:102267133-102267134	Weak transcription Strong transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs555179306	chr11:102267139-102267140	Weak transcription Strong transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs543751567	chr11:102267155-102267156	Weak transcription Strong transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs199509925	chr11:102267159-102267160	Weak transcription Strong transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs12287606	chr11:102267167-102267168	Weak transcription Strong transcription Enhancers Genic enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs34628546	chr11:102267168-102267169	Weak transcription Strong transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs1058570	chr11:102267170-102267171	Weak transcription Strong transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Melanoma	22183965	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
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal cancer	21851588	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Colorectal cancer	16912164	CNVD
Ovarian cancer	21720365	CNVD

Chromatin state (count:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102220000-102283000	Weak transcription	Hela-S3	cervix
2	chr11:102245400-102278000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr11:102245600-102275600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:102245800-102275000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr11:102246000-102278400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr11:102246200-102267000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:102246200-102274400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr11:102246200-102281000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:102246200-102281000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr11:102246200-102281000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:102246800-102277800	Weak transcription	Stomach Mucosa	stomach
12	chr11:102247400-102275400	Strong transcription	Primary B cells from cord blood	blood
13	chr11:102251000-102268400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr11:102251200-102267400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr11:102251400-102271200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:102254000-102268000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:102254600-102267400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr11:102254800-102267400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr11:102255000-102267000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr11:102255600-102274800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr11:102256200-102267800	Weak transcription	Fetal Heart	heart
22	chr11:102257800-102267000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr11:102257800-102267200	Strong transcription	Primary T cells from cord blood	blood
24	chr11:102257800-102277800	Strong transcription	Fetal Thymus	thymus
25	chr11:102258400-102267600	Strong transcription	Osteobl	bone
26	chr11:102260000-102267000	Strong transcription	Fetal Intestine Small	intestine
27	chr11:102260200-102267800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr11:102260400-102268800	Weak transcription	HMEC	breast
29	chr11:102261200-102275000	Strong transcription	Fetal Intestine Large	intestine
30	chr11:102261200-102275400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:102261400-102267600	Strong transcription	Muscle Satellite Cultured Cells	--
32	chr11:102261400-102274600	Strong transcription	Dnd41	blood
33	chr11:102261400-102275400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:102261600-102274800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:102261800-102267000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr11:102261800-102267000	Strong transcription	Thymus	Thymus
37	chr11:102261800-102269200	Strong transcription	Placenta	Placenta
38	chr11:102261800-102272800	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr11:102261800-102272800	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr11:102261800-102273400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:102261800-102281000	Weak transcription	K562	blood
42	chr11:102262000-102267800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:102262000-102273000	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr11:102262000-102274800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr11:102262000-102277400	Strong transcription	Adipose Nuclei	Adipose
46	chr11:102262200-102272800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:102262400-102273000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr11:102262600-102267000	Strong transcription	Fetal Muscle Trunk	muscle
49	chr11:102262600-102267600	Strong transcription	HSMM	muscle
50	chr11:102262600-102267800	Weak transcription	HSMMtube	muscle

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