Variant report

Variant	esv3411183
Chromosome Location	chr11:33079771-33079998
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:33079764-33079832	Kidney_OC	kidney:	n/a	n/a

Variant related genes	Relation type
TCP11L1	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 79 )

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	rs558389459	chr11:33079781-33079782	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs538572184	chr11:33079788-33079789	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs572070611	chr11:33079805-33079806	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs11032132	chr11:33079838-33079839	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs10836018	chr11:33079852-33079853	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs574441714	chr11:33079884-33079885	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77132491	chr11:33079923-33079924	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12366195	chr11:33079951-33079952	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs550347821	chr11:33079963-33079964	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10767986	chr11:33079980-33079981	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs186273517	chr11:33079985-33079986	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33062000-33081000	Weak transcription	Spleen	Spleen
2	chr11:33062000-33081400	Weak transcription	Gastric	stomach
3	chr11:33062000-33081800	Weak transcription	Esophagus	oesophagus
4	chr11:33062000-33093600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:33062200-33085400	Weak transcription	Psoas Muscle	Psoas
6	chr11:33062600-33084800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr11:33062600-33094200	Weak transcription	Fetal Heart	heart
8	chr11:33062800-33080400	Weak transcription	Fetal Brain Male	brain
9	chr11:33062800-33081200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:33062800-33081400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr11:33062800-33084600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr11:33062800-33084800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr11:33062800-33107400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr11:33063000-33080200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr11:33063000-33080800	Weak transcription	Colon Smooth Muscle	Colon
16	chr11:33063000-33081000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr11:33063600-33080600	Weak transcription	Fetal Kidney	kidney
18	chr11:33063600-33081000	Weak transcription	Brain Substantia Nigra	brain
19	chr11:33063600-33084800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr11:33066000-33080000	Weak transcription	Aorta	Aorta
21	chr11:33066000-33080200	Weak transcription	Pancreas	Pancrea
22	chr11:33066000-33080400	Weak transcription	Brain Angular Gyrus	brain
23	chr11:33067400-33081000	Weak transcription	Brain Hippocampus Middle	brain
24	chr11:33067800-33080400	Weak transcription	Small Intestine	intestine
25	chr11:33067800-33081200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:33067800-33085800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:33068200-33081000	Weak transcription	Fetal Lung	lung
28	chr11:33070400-33080600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr11:33070600-33080400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr11:33071200-33081400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:33071800-33081400	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr11:33072000-33080200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr11:33072200-33081000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr11:33072600-33098800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr11:33072800-33079800	Weak transcription	Thymus	Thymus
36	chr11:33073800-33081800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr11:33074000-33080200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:33074400-33083000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr11:33074400-33085400	Strong transcription	Fetal Muscle Leg	muscle
40	chr11:33074800-33079800	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr11:33075000-33082200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr11:33075000-33130200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:33075600-33083600	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr11:33075800-33079800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr11:33075800-33082200	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr11:33076000-33080000	Strong transcription	Ovary	ovary
47	chr11:33076000-33082200	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr11:33076000-33129600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr11:33076200-33082400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr11:33076200-33083400	Strong transcription	Primary monocytes fromperipheralblood	blood

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