Variant report

Variant	esv1086462
Chromosome Location	chr11:48190128-48190134
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71045551	chr11:48190129-48190130	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7131268	chr11:48190133-48190134	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs1983072	chr11:48190134-48190135	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:59)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	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
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Breast cancer	21990379	CNVD
Acute myeloid leukemia	20729466	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48131600-48191600	Weak transcription	Small Intestine	intestine
2	chr11:48138200-48192600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr11:48149800-48190600	Weak transcription	Right Ventricle	heart
4	chr11:48151400-48191600	Weak transcription	Stomach Mucosa	stomach
5	chr11:48156400-48191400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr11:48163400-48192400	Weak transcription	Colon Smooth Muscle	Colon
7	chr11:48174000-48190800	Strong transcription	Liver	Liver
8	chr11:48175200-48191200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr11:48175400-48192400	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr11:48175600-48191000	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr11:48175800-48190800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:48175800-48190800	Weak transcription	HSMMtube	muscle
13	chr11:48175800-48191600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr11:48176000-48190800	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr11:48176000-48194600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr11:48176200-48191000	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr11:48176200-48191200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr11:48176200-48192000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr11:48176600-48190600	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr11:48176600-48191800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr11:48177000-48190400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr11:48177600-48191000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:48177600-48191000	Weak transcription	Fetal Kidney	kidney
24	chr11:48177600-48191200	Strong transcription	Primary B cells from peripheral blood	blood
25	chr11:48177600-48191400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr11:48178000-48191200	Strong transcription	Primary B cells from cord blood	blood
27	chr11:48178200-48190800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr11:48179200-48190800	Weak transcription	Left Ventricle	heart
29	chr11:48179200-48193200	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr11:48179400-48191000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr11:48179400-48192200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr11:48183400-48191000	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr11:48184000-48191600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr11:48184200-48190800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr11:48184200-48191000	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr11:48184400-48190600	Weak transcription	NHLF	lung
37	chr11:48184400-48191200	Weak transcription	Ovary	ovary
38	chr11:48184400-48191200	Weak transcription	HUVEC	blood vessel
39	chr11:48184600-48190600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:48184800-48191000	Strong transcription	Placenta	Placenta
41	chr11:48185000-48192000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr11:48185600-48192600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:48185800-48192400	Weak transcription	Fetal Brain Female	brain
44	chr11:48186000-48190400	Weak transcription	Colonic Mucosa	Colon
45	chr11:48186000-48190600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr11:48186000-48191000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr11:48186000-48191000	Weak transcription	Fetal Lung	lung
48	chr11:48186000-48191000	Weak transcription	HSMM	muscle
49	chr11:48186000-48191400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr11:48186000-48192800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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