Variant report

Variant	nsv467752
Chromosome Location	chr11:24190138-24267222
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:24202163..24204133-chr11:24208051..24210770,2	MCF-7	breast:
2	chr11:24202163..24204133-chr11:24208051..24210770,2	MCF-7	breast:
3	chr11:24221833..24223887-chr11:24233684..24236438,2	K562	blood:
4	chr11:24221833..24223887-chr11:24233684..24236438,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-17A1.2.1-3	chr11:24257023-24257051	ENSG00000254594

Extended variants
information (count: 1093 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:1093 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561285627	chr11:24203007-24203008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7107801	chr11:24203035-24203036	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs528164467	chr11:24203041-24203042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs113466898	chr11:24203056-24203057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144625096	chr11:24203058-24203059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs11027752	chr11:24203072-24203073	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs12421837	chr11:24203101-24203102	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs373745828	chr11:24203120-24203121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191718523	chr11:24203125-24203126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570038629	chr11:24203134-24203135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7123917	chr11:24203135-24203136	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs542371162	chr11:24203140-24203141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527453238	chr11:24203141-24203142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549095973	chr11:24203142-24203143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566109353	chr11:24203168-24203169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116060200	chr11:24203180-24203181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573028480	chr11:24203193-24203194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs377615995	chr11:24203201-24203202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138527243	chr11:24203202-24203203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs370410398	chr11:24203213-24203214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7107738	chr11:24203232-24203233	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs184968337	chr11:24203263-24203264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs35106923	chr11:24203265-24203266	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs542948627	chr11:24203266-24203267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550693223	chr11:24203333-24203334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10734349	chr11:24203350-24203351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572800377	chr11:24203362-24203363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs187695884	chr11:24203397-24203398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs145332131	chr11:24203418-24203419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs533323178	chr11:24203425-24203426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs11027753	chr11:24203427-24203428	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs563944939	chr11:24203456-24203457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529351495	chr11:24203459-24203460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192369544	chr11:24203467-24203468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549652380	chr11:24203522-24203523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs565892977	chr11:24203538-24203539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs77608311	chr11:24203554-24203555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs79543029	chr11:24203570-24203571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs373011936	chr11:24203582-24203583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs537576414	chr11:24203593-24203594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555868440	chr11:24206208-24206209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533942173	chr11:24206238-24206239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149123702	chr11:24206246-24206247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558902115	chr11:24206268-24206269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534839087	chr11:24206301-24206302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112968670	chr11:24206321-24206322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181498202	chr11:24206335-24206336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146676699	chr11:24206364-24206365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9665756	chr11:24206373-24206374	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs185245641	chr11:24206393-24206394	Weak transcription	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:24203000-24203600	Enhancers	Dnd41	blood
2	chr11:24206200-24211800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:24211800-24213200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:24212400-24213600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
5	chr11:24216400-24216600	ZNF genes & repeats	Right Atrium	heart
6	chr11:24219800-24220400	Enhancers	Placenta Amnion	Placenta Amnion
7	chr11:24220000-24220600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr11:24236200-24237000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:24248200-24248600	Enhancers	HepG2	liver
10	chr11:24248200-24249000	Enhancers	Stomach Mucosa	stomach
11	chr11:24248400-24249000	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr11:24255600-24257000	Enhancers	Stomach Mucosa	stomach
13	chr11:24255800-24257000	Enhancers	Gastric	stomach
14	chr11:24256200-24256800	Enhancers	Pancreas	Pancrea
15	chr11:24256200-24257200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:24256400-24256600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:24256400-24257000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:24257200-24260200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:24259800-24262800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr11:24259800-24262800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr11:24260200-24261800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:24260400-24261400	Enhancers	Colon Smooth Muscle	Colon
23	chr11:24260600-24261200	Enhancers	Rectal Smooth Muscle	rectum
24	chr11:24260800-24261200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:24261000-24261400	Enhancers	Fetal Muscle Leg	muscle
26	chr11:24261800-24262000	Enhancers	Psoas Muscle	Psoas
27	chr11:24262000-24270000	Weak transcription	Psoas Muscle	Psoas
28	chr11:24266600-24266800	Enhancers	Pancreatic Islets	Pancreatic Islet

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