Variant report

Variant	esv3334314
Chromosome Location	chr11:48096897-48097262
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	chr11:48082980..48084917-chr11:48096551..48099093,2	K562	blood:
2	chr11:48093831..48096549-chr11:48096756..48099477,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 62 )

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	rs540687258	chr11:48096929-48096930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs4256933	chr11:48096938-48096939	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs532489545	chr11:48096947-48096948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191324716	chr11:48097014-48097015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564827553	chr11:48097028-48097029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530757971	chr11:48097037-48097038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527601452	chr11:48097149-48097150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374518540	chr11:48097150-48097151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1910365	chr11:48097151-48097152	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs529872343	chr11:48097237-48097238	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138449679	chr11:48097253-48097254	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	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:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48079200-48102800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:48080600-48100800	Weak transcription	Spleen	Spleen
3	chr11:48081600-48097200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:48081800-48101600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr11:48086000-48100800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr11:48086000-48102000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr11:48086000-48109200	Weak transcription	Fetal Intestine Large	intestine
8	chr11:48086200-48098800	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr11:48086200-48100000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr11:48086200-48101000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr11:48086200-48101000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr11:48086200-48102000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr11:48086200-48114400	Weak transcription	Hela-S3	cervix
14	chr11:48086400-48101000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:48086800-48102800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr11:48087000-48100800	Weak transcription	Pancreas	Pancrea
17	chr11:48088400-48098800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:48089000-48102200	Weak transcription	NHDF-Ad	bronchial
19	chr11:48089000-48105800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr11:48089200-48100200	Weak transcription	Fetal Stomach	stomach
21	chr11:48089200-48108000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr11:48089400-48098800	Weak transcription	Osteobl	bone
23	chr11:48089400-48102400	Weak transcription	HSMM	muscle
24	chr11:48089600-48099800	Weak transcription	Brain Angular Gyrus	brain
25	chr11:48089800-48099200	Weak transcription	Brain Hippocampus Middle	brain
26	chr11:48089800-48100000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr11:48089800-48100000	Weak transcription	Brain Substantia Nigra	brain
28	chr11:48089800-48100400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr11:48090000-48098800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr11:48090400-48103000	Weak transcription	Thymus	Thymus
31	chr11:48090600-48099000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr11:48090600-48101800	Weak transcription	Primary T cells from cord blood	blood
33	chr11:48091000-48097600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr11:48091000-48098800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr11:48091800-48098600	Weak transcription	NH-A	brain
36	chr11:48091800-48100800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:48091800-48101800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr11:48092400-48109400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr11:48094000-48097200	Weak transcription	Gastric	stomach
40	chr11:48094000-48103600	Weak transcription	Small Intestine	intestine
41	chr11:48094400-48097800	Enhancers	Primary B cells from peripheral blood	blood
42	chr11:48094800-48097200	Enhancers	Primary B cells from cord blood	blood
43	chr11:48094800-48097400	Enhancers	Liver	Liver
44	chr11:48095000-48097200	Weak transcription	A549	lung
45	chr11:48095000-48098800	Weak transcription	Fetal Intestine Small	intestine
46	chr11:48095000-48100400	Weak transcription	Placenta	Placenta
47	chr11:48095000-48100800	Weak transcription	Lung	lung
48	chr11:48095200-48097200	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr11:48095200-48097400	Enhancers	GM12878-XiMat	blood
50	chr11:48095200-48097400	Weak transcription	Monocytes-CD14+_RO01746	blood

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