Variant report

Variant	nsv467710
Chromosome Location	chr11:16219341-16266740
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:40)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:40 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:16240077..16244324-chr11:16251034..16255034,5	K562	blood:
2	chr11:16256169..16258785-chr11:16346996..16349123,2	K562	blood:
3	chr11:16245998..16247921-chr11:16262395..16264566,2	K562	blood:
4	chr11:16253958..16256004-chr11:16256326..16259109,2	K562	blood:
5	chr11:16253958..16256004-chr11:16256326..16259109,2	K562	blood:
6	chr11:16248287..16249803-chr11:16256816..16258558,2	K562	blood:
7	chr11:16251402..16252987-chr11:16626584..16628103,2	K562	blood:
8	chr11:16263238..16264748-chr11:16273911..16275537,2	K562	blood:
9	chr11:16223882..16226263-chr11:16229633..16231626,2	K562	blood:
10	chr11:16219560..16222671-chr11:16224548..16227962,3	K562	blood:
11	chr11:16248287..16249803-chr11:16256816..16258558,2	K562	blood:
12	chr11:16253830..16255900-chr11:16301377..16303054,2	K562	blood:
13	chr11:16219560..16222671-chr11:16224548..16227962,3	K562	blood:
14	chr11:16262539..16264266-chr11:16264896..16266667,2	K562	blood:
15	chr11:16254762..16258115-chr11:16260794..16264082,4	K562	blood:
16	chr11:16218926..16220596-chr11:16221268..16223735,2	K562	blood:
17	chr11:16252253..16255458-chr11:16256326..16259202,3	K562	blood:
18	chr11:16254286..16256657-chr11:16264384..16267054,2	K562	blood:
19	chr11:16262539..16264266-chr11:16264896..16266667,2	K562	blood:
20	chr11:16235541..16237281-chr11:16252412..16254092,2	K562	blood:
21	chr11:16226649..16230230-chr11:16231608..16235450,4	K562	blood:
22	chr11:16258646..16260759-chr11:16262336..16265198,2	K562	blood:
23	chr11:16258646..16260759-chr11:16262336..16265198,2	K562	blood:
24	chr11:16213165..16216422-chr11:16216965..16220387,3	K562	blood:
25	chr11:16253250..16255469-chr11:16319154..16321553,2	K562	blood:
26	chr11:16226649..16230230-chr11:16231608..16235450,4	K562	blood:
27	chr11:16215320..16217059-chr11:16240927..16242475,2	K562	blood:
28	chr11:16209269..16212267-chr11:16243598..16245269,2	K562	blood:
29	chr11:16265955..16267897-chr11:16366139..16368672,2	K562	blood:
30	chr11:16223882..16226263-chr11:16229633..16231626,2	K562	blood:
31	chr11:16252253..16255458-chr11:16256326..16259202,3	K562	blood:
32	chr11:16235541..16237281-chr11:16252412..16254092,2	K562	blood:
33	chr11:16251614..16253946-chr11:16259376..16260960,2	K562	blood:
34	chr11:16254286..16256657-chr11:16264384..16267054,2	K562	blood:
35	chr11:16245998..16247921-chr11:16262395..16264566,2	K562	blood:
36	chr11:16254762..16258115-chr11:16260794..16264082,4	K562	blood:
37	chr11:16265440..16267766-chr11:16271349..16273913,2	K562	blood:
38	chr11:16251614..16253946-chr11:16259376..16260960,2	K562	blood:
39	chr11:16218926..16220596-chr11:16221268..16223735,2	K562	blood:
40	chr11:16240077..16244324-chr11:16251034..16255034,5	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PLEKHA7-5	chr11:16221974-16222435	NONHSAT018173

No data

Variant related genes	Relation type
ENSG00000110693	chromatin interactions

Extended variants
information (count: 1489 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1489 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1356647	chr11:16219341-16219342	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs189055101	chr11:16219361-16219362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539729704	chr11:16219400-16219401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558098914	chr11:16219423-16219424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2203832	chr11:16219432-16219433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12271920	chr11:16219468-16219469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181407653	chr11:16219480-16219481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79012709	chr11:16219511-16219512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4543943	chr11:16219545-16219546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs67824678	chr11:16219572-16219573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574825109	chr11:16219573-16219574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149940403	chr11:16219593-16219594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573581924	chr11:16219600-16219601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185642160	chr11:16219625-16219626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145166355	chr11:16219645-16219646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147552767	chr11:16219658-16219659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546055782	chr11:16219720-16219721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140727925	chr11:16219724-16219725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531292602	chr11:16219744-16219745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376595511	chr11:16219766-16219767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201578004	chr11:16219774-16219775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199801646	chr11:16219775-16219776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539888340	chr11:16219776-16219777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs71455880	chr11:16219793-16219794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370063150	chr11:16219794-16219795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549522671	chr11:16219820-16219821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529311719	chr11:16219901-16219902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11023868	chr11:16219988-16219989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568088598	chr11:16219989-16219990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528977551	chr11:16220093-16220094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547543196	chr11:16220126-16220127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565844734	chr11:16220135-16220136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553618966	chr11:16220142-16220143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs199890450	chr11:16220231-16220232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs7122351	chr11:16220289-16220290	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs367810933	chr11:16220315-16220316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572194793	chr11:16220324-16220325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188384992	chr11:16220340-16220341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569859995	chr11:16220378-16220379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs537390181	chr11:16220452-16220453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556278561	chr11:16220462-16220463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs180753249	chr11:16220477-16220478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541902291	chr11:16220495-16220496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs553867707	chr11:16220558-16220559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572280139	chr11:16220563-16220564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545598566	chr11:16220643-16220644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs369491041	chr11:16220649-16220650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs71484704	chr11:16220671-16220672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187235678	chr11:16220682-16220683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs16932711	chr11:16220750-16220751	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:55)

Disease	PMID	Source
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
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21785460	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Lung adenocarcinoma	17086460	CNVD
Urothelial cell carcinoma	18451213	CNVD
Lung cancer	17086460	CNVD
Uterine serous papillary cancer	19536090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:172 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16207200-16221200	Weak transcription	Fetal Intestine Large	intestine
2	chr11:16216600-16220000	Weak transcription	K562	blood
3	chr11:16217600-16224600	Weak transcription	Fetal Heart	heart
4	chr11:16218200-16223400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr11:16218400-16225800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:16220000-16221000	Enhancers	K562	blood
7	chr11:16224000-16224400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
8	chr11:16224400-16247200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr11:16224600-16224800	Enhancers	Fetal Heart	heart
10	chr11:16224800-16225200	Flanking Active TSS	Fetal Heart	heart
11	chr11:16225200-16227000	Enhancers	Fetal Heart	heart
12	chr11:16225400-16226800	Enhancers	HepG2	liver
13	chr11:16225800-16226000	Enhancers	Psoas Muscle	Psoas
14	chr11:16225800-16226400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:16226000-16238400	Weak transcription	Psoas Muscle	Psoas
16	chr11:16231600-16231800	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr11:16231800-16237000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:16231800-16240400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr11:16232800-16233200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr11:16233000-16233400	Enhancers	Fetal Heart	heart
21	chr11:16233000-16233600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:16233000-16233600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:16234600-16234800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr11:16235000-16237000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:16235800-16236200	Enhancers	Fetal Intestine Large	intestine
26	chr11:16237000-16239600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:16237000-16239800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:16238400-16238600	Enhancers	Psoas Muscle	Psoas
29	chr11:16238600-16260800	Weak transcription	Psoas Muscle	Psoas
30	chr11:16239600-16248200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:16240400-16241200	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr11:16241200-16242000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr11:16242000-16242600	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr11:16242600-16245000	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr11:16243200-16243600	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr11:16244800-16245200	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr11:16244800-16245400	Enhancers	HUVEC	blood vessel
38	chr11:16245000-16245200	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr11:16245200-16245400	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr11:16245200-16245400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr11:16245400-16246200	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr11:16245400-16247400	Weak transcription	HUVEC	blood vessel
43	chr11:16245800-16246000	Enhancers	Duodenum Mucosa	Duodenum
44	chr11:16246000-16247000	Weak transcription	Duodenum Mucosa	Duodenum
45	chr11:16246200-16246400	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr11:16246400-16246600	Enhancers	Fetal Intestine Large	intestine
47	chr11:16246400-16247000	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr11:16246600-16258600	Weak transcription	Fetal Intestine Large	intestine
49	chr11:16247000-16247200	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr11:16247000-16248400	Enhancers	Duodenum Mucosa	Duodenum

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