Variant report

Variant	nsv897075
Chromosome Location	chr11:24048904-24132249
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	chr11:24050963..24051741-chr2:171698003..171698753,2	MCF-7	breast:

Extended variants
information (count: 1028 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:1028 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528168517	chr11:24051009-24051010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs76956188	chr11:24051018-24051019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532508670	chr11:24051028-24051029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541404296	chr11:24051065-24051066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570943950	chr11:24051092-24051093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139728065	chr11:24051114-24051115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550470010	chr11:24051121-24051122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570379777	chr11:24051133-24051134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142521433	chr11:24051144-24051145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77941307	chr11:24051157-24051158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186374615	chr11:24051167-24051168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534799633	chr11:24051185-24051186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139519121	chr11:24051200-24051201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577734578	chr11:24051210-24051211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543618429	chr11:24051213-24051214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113558018	chr11:24051222-24051223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs6484005	chr11:24051239-24051240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146689758	chr11:24051259-24051260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558911736	chr11:24051287-24051288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528119645	chr11:24051302-24051303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs76690381	chr11:24051336-24051337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs75759904	chr11:24051341-24051342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544759452	chr11:24051389-24051390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190480943	chr11:24051402-24051403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183013328	chr11:24051406-24051407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs371752211	chr11:24051432-24051433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531905182	chr11:24051440-24051441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186847345	chr11:24051447-24051448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570316974	chr11:24051448-24051449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112063618	chr11:24051479-24051480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529610089	chr11:24051488-24051489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549739159	chr11:24051523-24051524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565913221	chr11:24051548-24051549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535039390	chr11:24051569-24051570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557935464	chr11:24051579-24051580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550529325	chr11:24051584-24051585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139724592	chr11:24051717-24051718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536801591	chr11:24051721-24051722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs11027669	chr11:24051724-24051725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573539019	chr11:24051762-24051763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543221189	chr11:24051779-24051780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542495789	chr11:24051788-24051789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs553263739	chr11:24051824-24051825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562225149	chr11:24051840-24051841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529305487	chr11:24051841-24051842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs572724775	chr11:24051869-24051870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144368685	chr11:24051870-24051871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs78720922	chr11:24051901-24051902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530634595	chr11:24051947-24051948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547463151	chr11:24051956-24051957	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
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
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:24051000-24052200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr11:24056200-24057400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:24065200-24065600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr11:24076800-24078000	Enhancers	Adipose Nuclei	Adipose
5	chr11:24085000-24085600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:24085400-24085800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:24085400-24086400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:24085400-24086400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr11:24085400-24086600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:24085400-24086600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr11:24085600-24086000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:24085800-24086200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr11:24085800-24086200	Enhancers	NH-A	brain
14	chr11:24085800-24086400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr11:24085800-24086400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr11:24085800-24086600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:24086000-24086400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr11:24086000-24087400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:24086200-24086400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr11:24086200-24086600	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr11:24086400-24086800	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr11:24086400-24091800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr11:24086400-24091800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr11:24086800-24091800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr11:24087400-24092000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:24089200-24089800	Enhancers	Stomach Smooth Muscle	stomach
27	chr11:24089600-24090200	Enhancers	Rectal Smooth Muscle	rectum
28	chr11:24089600-24091400	Weak transcription	Fetal Brain Male	brain
29	chr11:24091400-24091600	Enhancers	Fetal Brain Male	brain
30	chr11:24091600-24092000	Weak transcription	Fetal Brain Male	brain
31	chr11:24091600-24092200	Enhancers	Brain Germinal Matrix	brain
32	chr11:24091800-24092200	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr11:24091800-24092400	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr11:24091800-24092400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:24091800-24092600	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr11:24091800-24092600	Enhancers	Fetal Brain Female	brain
37	chr11:24092000-24092400	Enhancers	H1 Cell Line	embryonic stem cell
38	chr11:24092000-24092400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr11:24092000-24092600	Enhancers	Fetal Brain Male	brain
40	chr11:24098800-24099200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:24099200-24100200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:24099400-24099800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr11:24099600-24100000	Enhancers	Fetal Lung	lung
44	chr11:24099800-24100200	Enhancers	Stomach Mucosa	stomach
45	chr11:24100200-24101000	Enhancers	Ovary	ovary
46	chr11:24100200-24101400	Enhancers	NHLF	lung
47	chr11:24100200-24101600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr11:24101600-24104400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr11:24104000-24104800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr11:24104400-24105200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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