Variant report

Variant	nsv420
Chromosome Location	chr11:86845328-86890111
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:86847845..86849686-chr11:86851887..86854201,2	MCF-7	breast:
2	chr11:86867900..86869412-chr11:86871775..86874240,2	K562	blood:
3	chr11:86889371..86892096-chr11:86895507..86898091,3	K562	blood:
4	chr11:86847845..86849686-chr11:86851887..86854201,2	MCF-7	breast:
5	chr11:86867900..86869412-chr11:86871775..86874240,2	K562	blood:
6	chr11:86840088..86842543-chr11:86845796..86847320,2	K562	blood:

Extended variants
information (count: 1887 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1887 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116216491	chr11:86845358-86845359	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533020747	chr11:86845359-86845360	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546397215	chr11:86845363-86845364	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79601779	chr11:86845399-86845400	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535446396	chr11:86845443-86845444	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192833826	chr11:86845488-86845489	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs10898605	chr11:86845497-86845498	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs10898606	chr11:86845501-86845502	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs375537596	chr11:86845526-86845527	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149477586	chr11:86845529-86845530	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577776731	chr11:86845580-86845581	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540681128	chr11:86845585-86845586	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553976723	chr11:86845594-86845595	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546658144	chr11:86845598-86845599	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534924004	chr11:86845614-86845615	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547817471	chr11:86845622-86845623	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145983539	chr11:86845646-86845647	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371452114	chr11:86845662-86845663	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531908527	chr11:86845669-86845670	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374012341	chr11:86845690-86845691	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368123327	chr11:86845694-86845695	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567931650	chr11:86845708-86845709	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565445869	chr11:86845728-86845729	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527891282	chr11:86845737-86845738	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546628733	chr11:86845744-86845745	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566617449	chr11:86845747-86845748	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529090365	chr11:86845795-86845796	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528887598	chr11:86845806-86845807	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550341602	chr11:86845808-86845809	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35304163	chr11:86845875-86845876	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372381875	chr11:86845881-86845882	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs4315108	chr11:86845894-86845895	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs139683230	chr11:86845918-86845919	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571374405	chr11:86845933-86845934	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184368562	chr11:86845934-86845935	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557745625	chr11:86845953-86845954	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553837195	chr11:86846014-86846015	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368556584	chr11:86846042-86846043	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs61904215	chr11:86846092-86846093	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs556111723	chr11:86846095-86846096	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533888239	chr11:86846154-86846155	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376749097	chr11:86846162-86846163	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78797664	chr11:86846174-86846175	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545644854	chr11:86846208-86846209	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs516120	chr11:86846373-86846374	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs189447460	chr11:86846380-86846381	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541305113	chr11:86846405-86846406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34249821	chr11:86846419-86846420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560274270	chr11:86846432-86846433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35171780	chr11:86846443-86846444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	21364760	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Attention deficit hyperactivity disorder	22241247	CNVD
Breast cancer	21958427	CNVD
Breast cancer	17133270	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Obesity	20622171	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:434 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86809000-86876000	Weak transcription	Left Ventricle	heart
2	chr11:86833400-86849400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr11:86834600-86849800	Weak transcription	Primary B cells from cord blood	blood
4	chr11:86836200-86853000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:86836600-86848800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:86836800-86877200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:86837200-86852600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:86838600-86846600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:86839600-86850400	Weak transcription	Fetal Lung	lung
10	chr11:86840000-86849800	Weak transcription	HepG2	liver
11	chr11:86841600-86845400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr11:86843200-86850200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:86843400-86847400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr11:86843800-86845800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr11:86843800-86846400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:86845000-86845600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:86845400-86845600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr11:86845600-86845800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:86845800-86846000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:86845800-86847800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr11:86846600-86849800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:86847200-86853200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:86847800-86848400	Enhancers	Adipose Nuclei	Adipose
24	chr11:86847800-86849600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:86847800-86851200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:86848000-86848400	Enhancers	Rectal Smooth Muscle	rectum
27	chr11:86848200-86849000	Enhancers	Colon Smooth Muscle	Colon
28	chr11:86848400-86849400	Weak transcription	Adipose Nuclei	Adipose
29	chr11:86848600-86849800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:86848800-86849000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr11:86849400-86849600	Enhancers	Adipose Nuclei	Adipose
32	chr11:86849400-86850000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
33	chr11:86849400-86850400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:86849600-86851800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr11:86849800-86850800	ZNF genes & repeats	Primary B cells from cord blood	blood
36	chr11:86849800-86850800	ZNF genes & repeats	HepG2	liver
37	chr11:86850000-86851600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr11:86850200-86850600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:86850200-86851000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
40	chr11:86850200-86851200	Weak transcription	Right Atrium	heart
41	chr11:86850200-86854600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr11:86850400-86850600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
43	chr11:86850400-86850800	ZNF genes & repeats	Fetal Lung	lung
44	chr11:86850400-86850800	ZNF genes & repeats	Dnd41	blood
45	chr11:86850600-86850800	ZNF genes & repeats	Primary T cells from cord blood	blood
46	chr11:86850600-86853800	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr11:86850600-86861600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr11:86850800-86853000	Weak transcription	Primary T cells from cord blood	blood
49	chr11:86850800-86853200	Weak transcription	Dnd41	blood
50	chr11:86850800-86853200	Weak transcription	HepG2	liver

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