Variant report

Variant	esv2415841
Chromosome Location	chr11:48069051-48069052
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:48068334..48069860-chr11:48070016..48072544,2	MCF-7	breast:
2	chr11:48068073..48069888-chr11:48129032..48131534,2	MCF-7	breast:
3	chr11:48065377..48067770-chr11:48067852..48069454,2	MCF-7	breast:
4	chr11:48001276..48003972-chr11:48068984..48071526,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000149177	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 63 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs60885977	chr11:48069051-48069052	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Glioblastoma multiforme	21390271	CNVD
Acute lymphoblastic leukemia	20699438	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21990379	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48047400-48073400	Weak transcription	HSMMtube	muscle
2	chr11:48047400-48073800	Weak transcription	Left Ventricle	heart
3	chr11:48050800-48073000	Weak transcription	Esophagus	oesophagus
4	chr11:48051600-48071200	Weak transcription	Fetal Intestine Large	intestine
5	chr11:48051600-48073800	Weak transcription	Aorta	Aorta
6	chr11:48053800-48073400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr11:48057000-48069800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr11:48058000-48069600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:48058000-48073400	Weak transcription	K562	blood
10	chr11:48058400-48069600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr11:48058600-48069600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr11:48058600-48072000	Weak transcription	Fetal Kidney	kidney
13	chr11:48060000-48073000	Weak transcription	Hela-S3	cervix
14	chr11:48060000-48073200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:48062600-48073400	Weak transcription	Gastric	stomach
16	chr11:48062800-48070600	Weak transcription	Pancreas	Pancrea
17	chr11:48064400-48069600	Weak transcription	Fetal Stomach	stomach
18	chr11:48064400-48069600	Weak transcription	NHDF-Ad	bronchial
19	chr11:48064400-48073200	Weak transcription	NHLF	lung
20	chr11:48064600-48069200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr11:48064600-48073400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr11:48065000-48071600	Genic enhancers	A549	lung
23	chr11:48065600-48076000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr11:48065800-48069400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr11:48065800-48074200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:48066000-48069600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:48066000-48069600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr11:48066000-48069800	Weak transcription	Adipose Nuclei	Adipose
29	chr11:48066000-48071800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:48066000-48073000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr11:48066000-48073800	Weak transcription	Colonic Mucosa	Colon
32	chr11:48066000-48073800	Weak transcription	Right Atrium	heart
33	chr11:48066000-48074000	Weak transcription	Fetal Muscle Leg	muscle
34	chr11:48066000-48075600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:48066000-48076800	Weak transcription	Thymus	Thymus
36	chr11:48066200-48071600	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr11:48066200-48071800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr11:48066200-48072000	Weak transcription	Liver	Liver
39	chr11:48066200-48072400	Weak transcription	Fetal Thymus	thymus
40	chr11:48066200-48073000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr11:48066200-48073800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr11:48066400-48069600	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr11:48066400-48071800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr11:48066400-48073400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr11:48066400-48073800	Weak transcription	Lung	lung
46	chr11:48066600-48069800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr11:48066600-48073400	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr11:48066800-48069400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr11:48067000-48072800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr11:48067000-48073800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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