Variant report

Variant	esv1446865
Chromosome Location	chr11:48106823-48106825
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:48001457..48003735-chr11:48105234..48107341,2	K562	blood:
2	chr11:48101649..48104254-chr11:48106713..48109745,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000149177	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35669006	chr11:48106824-48106825	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs397948939	chr11:48106825-48106826	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

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

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48086000-48109200	Weak transcription	Fetal Intestine Large	intestine
2	chr11:48086200-48114400	Weak transcription	Hela-S3	cervix
3	chr11:48089200-48108000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr11:48092400-48109400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:48095200-48114200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr11:48096400-48111200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr11:48097200-48109800	Weak transcription	Colonic Mucosa	Colon
8	chr11:48097600-48109600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr11:48097600-48110000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr11:48101200-48108000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr11:48102400-48110000	Weak transcription	Aorta	Aorta
12	chr11:48102600-48109600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr11:48102800-48109600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:48103000-48110000	Weak transcription	Fetal Brain Male	brain
15	chr11:48103200-48114200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr11:48103400-48109000	Weak transcription	Pancreas	Pancrea
17	chr11:48103400-48109200	Weak transcription	HepG2	liver
18	chr11:48103400-48110200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr11:48103400-48111600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:48103400-48114000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr11:48103600-48109200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:48103600-48109400	Weak transcription	Brain Substantia Nigra	brain
23	chr11:48103600-48109600	Weak transcription	Left Ventricle	heart
24	chr11:48103600-48109800	Weak transcription	Gastric	stomach
25	chr11:48103600-48112000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr11:48103600-48115400	Weak transcription	HSMMtube	muscle
27	chr11:48103600-48122800	Weak transcription	Right Ventricle	heart
28	chr11:48103800-48109200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr11:48103800-48109200	Weak transcription	Small Intestine	intestine
30	chr11:48103800-48109600	Weak transcription	Primary T cells from cord blood	blood
31	chr11:48103800-48109800	Weak transcription	Osteobl	bone
32	chr11:48103800-48115400	Weak transcription	HSMM	muscle
33	chr11:48104000-48108600	Weak transcription	Brain Angular Gyrus	brain
34	chr11:48104000-48109600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr11:48104400-48110000	Weak transcription	Lung	lung
36	chr11:48104600-48107200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr11:48104600-48107400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr11:48104600-48108000	Weak transcription	Brain Anterior Caudate	brain
39	chr11:48104600-48108000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr11:48104600-48109200	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr11:48104600-48109800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr11:48104600-48109800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr11:48104600-48110000	Weak transcription	Right Atrium	heart
44	chr11:48104800-48109600	Weak transcription	Stomach Mucosa	stomach
45	chr11:48104800-48109600	Weak transcription	Spleen	Spleen
46	chr11:48104800-48109800	Weak transcription	Adipose Nuclei	Adipose
47	chr11:48104800-48110000	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr11:48105000-48110200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr11:48105200-48117400	Weak transcription	NHDF-Ad	bronchial
50	chr11:48105400-48107400	Weak transcription	Brain Hippocampus Middle	brain

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