Variant report

Variant	esv3414014
Chromosome Location	chr11:33333353-33333585
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:33330031..33332498-chr11:33332591..33335075,2	MCF-7	breast:
2	chr11:33330605..33333745-chr11:33333939..33336380,3	K562	blood:
3	chr11:33279271..33281260-chr11:33331405..33333879,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TCP11L1-3	chr11:33333205-33333598	expReg_chr11_2971_+

Variant related genes	Relation type
ENSG00000110422	chromatin interactions

Extended variants
information (count: 11 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370396153	chr11:33333383-33333384	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs373401316	chr11:33333384-33333385	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs367688508	chr11:33333416-33333417	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs369783330	chr11:33333429-33333430	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs11602922	chr11:33333445-33333446	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs376637801	chr11:33333456-33333457	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs147961313	chr11:33333457-33333458	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs71034671	chr11:33333482-33333483	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs144421170	chr11:33333521-33333522	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs71034672	chr11:33333541-33333542	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs190749230	chr11:33333576-33333577	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	22286061	CNVD
Aniridia syndrome	21572526	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Retinoblastoma	22278416	CNVD
Denys-drash syndrome	21085971	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
WAGR syndrome	16773131	CNVD
Disorders of sex development	22290220	CNVD
Aniridia syndrome	17204608	CNVD
Mental retardation	17204608	CNVD
WAGR syndrome	19617690	CNVD
genitourinary abnormalities	17204608	CNVD
Breast cancer	16397240	CNVD
Mental retardation	16773131	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Cancer	21183584	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
WAGR syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Denys-drash syndrome	19566914	CNVD
Familial wilms tumor	19566914	CNVD
Frasier syndrome	19566914	CNVD
Non-small cell lung cancer	21829676	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	16620391	CNVD

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33290000-33336800	Weak transcription	Lung	lung
2	chr11:33298800-33339000	Weak transcription	NHEK	skin
3	chr11:33302200-33333400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:33309000-33339000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:33310800-33334400	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr11:33316600-33335400	Weak transcription	Esophagus	oesophagus
7	chr11:33317200-33340600	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr11:33317400-33336800	Weak transcription	Primary B cells from peripheral blood	blood
9	chr11:33317400-33337200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr11:33317400-33345800	Weak transcription	Gastric	stomach
11	chr11:33318000-33360200	Weak transcription	Primary T cells from cord blood	blood
12	chr11:33318400-33335400	Weak transcription	Ovary	ovary
13	chr11:33318600-33338200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr11:33319200-33335000	Weak transcription	Fetal Lung	lung
15	chr11:33319200-33348800	Weak transcription	Hela-S3	cervix
16	chr11:33319800-33342800	Weak transcription	Fetal Intestine Large	intestine
17	chr11:33319800-33352600	Weak transcription	Dnd41	blood
18	chr11:33320400-33338800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:33320400-33340400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr11:33320400-33341600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:33320400-33341800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:33320600-33369400	Weak transcription	Fetal Brain Male	brain
23	chr11:33321600-33338000	Weak transcription	Fetal Stomach	stomach
24	chr11:33323600-33341600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr11:33325000-33333800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr11:33325200-33337000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr11:33325400-33334200	Weak transcription	Brain Germinal Matrix	brain
28	chr11:33326800-33341600	Weak transcription	Spleen	Spleen
29	chr11:33327200-33336600	Weak transcription	NHDF-Ad	bronchial
30	chr11:33327600-33334400	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr11:33327600-33338800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr11:33330000-33334200	Weak transcription	A549	lung
33	chr11:33330000-33337800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr11:33330000-33341400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr11:33330200-33334200	Weak transcription	Adipose Nuclei	Adipose
36	chr11:33330200-33334400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr11:33330200-33337000	Weak transcription	NHLF	lung
38	chr11:33330200-33337000	Weak transcription	Osteobl	bone
39	chr11:33330200-33339000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr11:33330200-33339200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr11:33330200-33342600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr11:33330600-33333600	Enhancers	Left Ventricle	heart
43	chr11:33331000-33334200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:33331000-33334200	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr11:33331000-33335400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr11:33331200-33340600	Weak transcription	Small Intestine	intestine
47	chr11:33331400-33333600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr11:33332000-33333600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr11:33332000-33337000	Weak transcription	Right Atrium	heart
50	chr11:33332200-33337200	Enhancers	Skeletal Muscle Male	skeletal muscle

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