Variant report

Variant	esv3499
Chromosome Location	chr11:48120005-48120503
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:48119543..48121197-chr11:48126844..48128670,2	K562	blood:
2	chr11:47869473..47872069-chr11:48119800..48121931,2	MCF-7	breast:
3	chr11:18993520..18994020-chr11:48120012..48120966,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000030066	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368811086	chr11:48120060-48120061	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs200069150	chr11:48120075-48120076	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs533909894	chr11:48120218-48120219	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs547801920	chr11:48120220-48120221	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs372821135	chr11:48120230-48120231	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs4424638	chr11:48120292-48120293	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs538896340	chr11:48120322-48120323	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs558577715	chr11:48120353-48120354	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs367751542	chr11:48120355-48120356	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs188533753	chr11:48120368-48120369	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs369860254	chr11:48120370-48120371	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs376912798	chr11:48120436-48120437	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs575354883	chr11:48120452-48120453	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs137941264	chr11:48120480-48120481	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs141623755	chr11:48120492-48120493	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs574620157	chr11:48120497-48120498	Weak transcription Enhancers	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:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48103600-48122800	Weak transcription	Right Ventricle	heart
2	chr11:48105800-48121400	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr11:48108800-48125400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr11:48110200-48121200	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr11:48111000-48125400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:48111400-48121400	Weak transcription	Primary T cells from cord blood	blood
7	chr11:48111800-48121600	Weak transcription	Primary B cells from cord blood	blood
8	chr11:48112800-48121200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr11:48113800-48125400	Enhancers	Brain Hippocampus Middle	brain
10	chr11:48114600-48131400	Weak transcription	Esophagus	oesophagus
11	chr11:48115800-48121000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr11:48115800-48127400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr11:48116000-48121600	Weak transcription	GM12878-XiMat	blood
14	chr11:48116200-48127400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr11:48116400-48121400	Enhancers	Liver	Liver
16	chr11:48116400-48122000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr11:48116400-48125600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:48116400-48128600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr11:48116600-48121400	Enhancers	HepG2	liver
20	chr11:48116600-48121600	Weak transcription	Primary B cells from peripheral blood	blood
21	chr11:48116600-48122600	Weak transcription	Small Intestine	intestine
22	chr11:48116600-48122800	Weak transcription	Colonic Mucosa	Colon
23	chr11:48116600-48122800	Weak transcription	Left Ventricle	heart
24	chr11:48116600-48131200	Weak transcription	Psoas Muscle	Psoas
25	chr11:48117400-48120200	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr11:48117400-48120200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr11:48117400-48122800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr11:48117800-48121200	Enhancers	A549	lung
29	chr11:48117800-48121600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr11:48118000-48121200	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr11:48118000-48122800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:48118000-48123000	Weak transcription	Fetal Kidney	kidney
33	chr11:48118000-48123000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr11:48118200-48122600	Weak transcription	Osteobl	bone
35	chr11:48118200-48123000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr11:48118200-48125600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr11:48118200-48125600	Weak transcription	HSMM	muscle
38	chr11:48118400-48121200	Weak transcription	Brain Angular Gyrus	brain
39	chr11:48118400-48122600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr11:48118400-48122600	Weak transcription	NHDF-Ad	bronchial
41	chr11:48118400-48122800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:48118400-48122800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:48118400-48122800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr11:48118600-48120600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr11:48118600-48121200	Weak transcription	Fetal Intestine Small	intestine
46	chr11:48118800-48120600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr11:48118800-48121000	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr11:48118800-48121000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr11:48118800-48121200	Weak transcription	Fetal Intestine Large	intestine
50	chr11:48118800-48121400	Weak transcription	Brain Anterior Caudate	brain

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