Variant report

Variant	nsv423
Chromosome Location	chr11:87207723-87252615
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:87241708..87244193-chr11:87247237..87248940,2	K562	blood:
2	chr11:87228574..87230526-chr11:87233558..87236260,2	K562	blood:
3	chr11:87220063..87221996-chr11:87226594..87228726,2	K562	blood:
4	chr11:87241708..87244193-chr11:87247237..87248940,2	K562	blood:
5	chr11:87220063..87221996-chr11:87226594..87228726,2	K562	blood:
6	chr11:87228574..87230526-chr11:87233558..87236260,2	K562	blood:

Extended variants
information (count: 1190 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:1190 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111513172	chr11:87207761-87207762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564663660	chr11:87207863-87207864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34455716	chr11:87207961-87207962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145811675	chr11:87207968-87207969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570006499	chr11:87207973-87207974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538919425	chr11:87207987-87207988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76684119	chr11:87207995-87207996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565902444	chr11:87208031-87208032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534483218	chr11:87208086-87208087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191396042	chr11:87208092-87208093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148702482	chr11:87208124-87208125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185661894	chr11:87208130-87208131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568122415	chr11:87208134-87208135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9645704	chr11:87208147-87208148	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs9645705	chr11:87208151-87208152	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs148690131	chr11:87208167-87208168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs72166920	chr11:87208168-87208169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs80337789	chr11:87208172-87208173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557911815	chr11:87208199-87208200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546112772	chr11:87208200-87208201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372551007	chr11:87208206-87208207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9645706	chr11:87208278-87208279	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs528695409	chr11:87208331-87208332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73539931	chr11:87208387-87208388	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs561085087	chr11:87208408-87208409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529743670	chr11:87208416-87208417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549783101	chr11:87208430-87208431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs137887296	chr11:87208449-87208450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532116315	chr11:87208450-87208451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76013624	chr11:87208451-87208452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7119694	chr11:87208472-87208473	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs573684791	chr11:87208488-87208489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554461542	chr11:87208494-87208495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188987678	chr11:87208508-87208509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs193033413	chr11:87208512-87208513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10898713	chr11:87208522-87208523	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs576843570	chr11:87208534-87208535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545752269	chr11:87208550-87208551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553256004	chr11:87208555-87208556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185369995	chr11:87208566-87208567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10898714	chr11:87208591-87208592	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs562126548	chr11:87208611-87208612	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs12270187	chr11:87208650-87208651	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs543564236	chr11:87208691-87208692	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs563337474	chr11:87208707-87208708	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs532153189	chr11:87208709-87208710	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs189794617	chr11:87208710-87208711	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs559643306	chr11:87208718-87208719	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs528362753	chr11:87208763-87208764	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs564714946	chr11:87208776-87208777	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Renal cell carcinoma	18194544	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:87204800-87207800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:87206200-87207800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:87206400-87209400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:87208200-87208400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:87208200-87208600	Enhancers	H1 Cell Line	embryonic stem cell
6	chr11:87208600-87209000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:87209400-87209600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:87218400-87219000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:87218400-87219200	Enhancers	H9 Cell Line	embryonic stem cell
10	chr11:87218400-87219200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr11:87218400-87219200	Enhancers	HepG2	liver
12	chr11:87218400-87219400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:87218400-87219400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr11:87218400-87219800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr11:87218800-87219400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr11:87219000-87219400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:87219000-87219400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr11:87219000-87219400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr11:87219000-87219400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:87219000-87219800	Enhancers	H1 Cell Line	embryonic stem cell
21	chr11:87219200-87223800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr11:87219200-87223800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr11:87219400-87223600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr11:87219400-87223800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr11:87219400-87223800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr11:87219800-87223600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr11:87219800-87223800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr11:87221200-87223600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr11:87223600-87224400	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr11:87223600-87224400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr11:87223600-87224600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr11:87223800-87224000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr11:87223800-87224400	Enhancers	H9 Cell Line	embryonic stem cell
34	chr11:87223800-87224400	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr11:87223800-87224600	Enhancers	H1 Cell Line	embryonic stem cell
36	chr11:87223800-87224600	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr11:87223800-87224600	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr11:87223800-87224800	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr11:87223800-87224800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr11:87223800-87225000	Enhancers	Brain Germinal Matrix	brain
41	chr11:87224000-87224400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr11:87224400-87225200	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr11:87224600-87225000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr11:87224800-87232200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr11:87225000-87225400	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr11:87225200-87225600	Enhancers	H9 Cell Line	embryonic stem cell
47	chr11:87225600-87225800	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr11:87225800-87226200	Enhancers	H9 Cell Line	embryonic stem cell
49	chr11:87228400-87230400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr11:87228600-87230200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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