Variant report

Variant	nsv1037145
Chromosome Location	chr11:15818508-15830938
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:15822557..15824304-chr11:15825840..15828471,2	K562	blood:
2	chr11:15820342..15822081-chr11:15829638..15831480,2	K562	blood:
3	chr11:15822557..15824304-chr11:15825840..15828471,2	K562	blood:
4	chr11:15820342..15822081-chr11:15829638..15831480,2	K562	blood:

Extended variants
information (count: 460 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:460 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10219159	chr11:15818508-15818509	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569970262	chr11:15818509-15818510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs72860650	chr11:15818523-15818524	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs555649993	chr11:15818580-15818581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567830238	chr11:15818598-15818599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534832544	chr11:15818648-15818649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149906518	chr11:15818657-15818658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs578098721	chr11:15818684-15818685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558466775	chr11:15818713-15818714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545380457	chr11:15818819-15818820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570347436	chr11:15818849-15818850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558086374	chr11:15818860-15818861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs72460826	chr11:15818952-15818953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181116306	chr11:15818983-15818984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537878373	chr11:15818985-15818986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543618584	chr11:15819036-15819037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561762688	chr11:15819133-15819134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573776452	chr11:15819139-15819140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555973885	chr11:15819142-15819143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140293968	chr11:15819147-15819148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532770065	chr11:15819206-15819207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550937069	chr11:15819243-15819244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574210828	chr11:15819282-15819283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563656634	chr11:15819337-15819338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531140976	chr11:15819359-15819360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185609527	chr11:15819413-15819414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567808315	chr11:15819448-15819449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74977496	chr11:15819496-15819497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553554694	chr11:15819543-15819544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144242756	chr11:15819589-15819590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76839291	chr11:15819596-15819597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539057694	chr11:15819603-15819604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375624107	chr11:15819627-15819628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575573115	chr11:15819645-15819646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536992197	chr11:15819685-15819686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375238469	chr11:15819729-15819730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74874434	chr11:15819746-15819747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534896161	chr11:15819769-15819770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540782973	chr11:15819800-15819801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372880203	chr11:15819823-15819824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189699602	chr11:15819853-15819854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577287389	chr11:15819857-15819858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116606530	chr11:15819866-15819867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147845948	chr11:15819936-15819937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545770078	chr11:15820050-15820051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112739915	chr11:15820064-15820065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148910590	chr11:15820113-15820114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78375327	chr11:15820134-15820135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142601974	chr11:15820180-15820181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528680004	chr11:15820205-15820206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	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
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Myelofibrosis	22110671	CNVD
Cancer	24489367	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Neuroblastoma	19435921	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21858162	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:15813800-15828800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:15815800-15821200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr11:15816200-15820800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr11:15816200-15821400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:15816400-15821200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:15816400-15821200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr11:15816400-15821200	Weak transcription	Osteobl	bone
8	chr11:15816400-15821600	Weak transcription	HSMM	muscle
9	chr11:15816600-15821400	Weak transcription	NH-A	brain
10	chr11:15817200-15821600	Weak transcription	Right Ventricle	heart
11	chr11:15817400-15821400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr11:15820200-15820400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:15820200-15821600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:15820400-15821400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr11:15820600-15821000	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr11:15820600-15821600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:15820800-15821200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:15821000-15821800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr11:15821000-15822400	Enhancers	Adipose Nuclei	Adipose
20	chr11:15821000-15823200	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr11:15821200-15821400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:15821200-15821400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr11:15821200-15821400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr11:15821200-15821600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr11:15821200-15821600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr11:15821200-15821800	Enhancers	Osteobl	bone
27	chr11:15821200-15822600	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr11:15821400-15821600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr11:15821400-15821600	Enhancers	HSMMtube	muscle
30	chr11:15821400-15821600	Enhancers	NHLF	lung
31	chr11:15821400-15821800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:15821400-15822000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:15821400-15822000	Enhancers	Stomach Mucosa	stomach
34	chr11:15821400-15822200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
35	chr11:15821400-15822200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:15821400-15822400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:15821400-15822400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr11:15821400-15822600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr11:15821400-15822600	Enhancers	HMEC	breast
40	chr11:15821400-15822600	Enhancers	NHEK	skin
41	chr11:15821400-15823800	Enhancers	Placenta Amnion	Placenta Amnion
42	chr11:15821400-15824000	Enhancers	NH-A	brain
43	chr11:15821600-15821800	Enhancers	Right Ventricle	heart
44	chr11:15821600-15821800	Flanking Active TSS	HSMMtube	muscle
45	chr11:15821600-15822000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr11:15821600-15822000	Enhancers	Esophagus	oesophagus
47	chr11:15821600-15822000	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr11:15821600-15822200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr11:15821600-15822200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr11:15821600-15822200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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