Variant report

Variant	nsv518780
Chromosome Location	chr11:85245772-85266793
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 882 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:882 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1863256	chr11:85245772-85245773	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs116493975	chr11:85245782-85245783	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs115622944	chr11:85245887-85245888	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544188377	chr11:85245889-85245890	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1117091	chr11:85245916-85245917	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531233877	chr11:85245922-85245923	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555686533	chr11:85245925-85245926	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546208068	chr11:85245926-85245927	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs199905209	chr11:85245981-85245982	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564686287	chr11:85245988-85245989	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371638861	chr11:85246006-85246007	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115364678	chr11:85246013-85246014	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114293992	chr11:85246084-85246085	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568168933	chr11:85246110-85246111	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529353682	chr11:85246115-85246116	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550942128	chr11:85246172-85246173	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569199390	chr11:85246267-85246268	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181079215	chr11:85246270-85246271	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557736155	chr11:85246271-85246272	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114836586	chr11:85246273-85246274	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533930442	chr11:85246276-85246277	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570240414	chr11:85246377-85246378	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543751509	chr11:85246390-85246391	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs472784	chr11:85246395-85246396	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs146721145	chr11:85246396-85246397	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575718853	chr11:85246406-85246407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537591205	chr11:85246412-85246413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185728333	chr11:85246422-85246423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369057066	chr11:85246433-85246434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115500115	chr11:85246441-85246442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545004076	chr11:85246453-85246454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373008973	chr11:85246457-85246458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143881782	chr11:85246514-85246515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543297978	chr11:85246569-85246570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140321328	chr11:85246590-85246591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189747634	chr11:85246604-85246605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs35139133	chr11:85246607-85246608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540384634	chr11:85246627-85246628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556464687	chr11:85246628-85246629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150364058	chr11:85246685-85246686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529341159	chr11:85246689-85246690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs61286868	chr11:85246708-85246709	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs138093613	chr11:85246753-85246754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115580998	chr11:85246768-85246769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551756529	chr11:85246819-85246820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549044301	chr11:85246871-85246872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566734282	chr11:85246875-85246876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534122429	chr11:85246926-85246927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545087265	chr11:85246972-85246973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs72953982	chr11:85246976-85246977	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:79)

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	17899364	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
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	20844748	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Colorectal cancer	16912164	CNVD
Mental retardation	17847001	CNVD
Melanoma	19509136	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
Bipolar disorder	19114987	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ductal carcinoma	22052326	CNVD
Obesity	20622171	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:145 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85234000-85247600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:85235200-85251000	Weak transcription	Psoas Muscle	Psoas
3	chr11:85235800-85245800	Weak transcription	Aorta	Aorta
4	chr11:85242600-85250200	Weak transcription	Fetal Heart	heart
5	chr11:85242800-85245800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:85242800-85245800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr11:85242800-85248000	Weak transcription	Ovary	ovary
8	chr11:85242800-85248400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr11:85242800-85250000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr11:85243000-85245800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:85244400-85245800	Weak transcription	Right Ventricle	heart
12	chr11:85244600-85251400	Weak transcription	Brain Hippocampus Middle	brain
13	chr11:85244600-85251400	Weak transcription	Colon Smooth Muscle	Colon
14	chr11:85244800-85247400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr11:85245400-85246200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
16	chr11:85245600-85245800	Weak transcription	Fetal Lung	lung
17	chr11:85245600-85246000	ZNF genes & repeats	Liver	Liver
18	chr11:85245600-85246200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
19	chr11:85245600-85246200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:85245600-85246200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
21	chr11:85245600-85246400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
22	chr11:85245800-85246000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
23	chr11:85245800-85246000	ZNF genes & repeats	Aorta	Aorta
24	chr11:85245800-85246000	ZNF genes & repeats	Right Ventricle	heart
25	chr11:85245800-85246200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:85245800-85246400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
27	chr11:85246000-85247000	Weak transcription	Aorta	Aorta
28	chr11:85246000-85251000	Weak transcription	Right Ventricle	heart
29	chr11:85246200-85248200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr11:85246200-85250800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:85246400-85249000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr11:85246600-85248400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr11:85247000-85248800	ZNF genes & repeats	Aorta	Aorta
34	chr11:85247400-85248400	Strong transcription	Stomach Smooth Muscle	stomach
35	chr11:85247400-85248600	ZNF genes & repeats	Gastric	stomach
36	chr11:85247400-85248800	ZNF genes & repeats	Pancreas	Pancrea
37	chr11:85247600-85248800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr11:85247600-85248800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
39	chr11:85248000-85248800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
40	chr11:85248000-85248800	Strong transcription	Ovary	ovary
41	chr11:85248200-85248600	ZNF genes & repeats	Adipose Nuclei	Adipose
42	chr11:85248200-85248600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
43	chr11:85248200-85248800	ZNF genes & repeats	Lung	lung
44	chr11:85248400-85248600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
45	chr11:85248400-85248600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
46	chr11:85248400-85248600	ZNF genes & repeats	Stomach Smooth Muscle	stomach
47	chr11:85248400-85248800	ZNF genes & repeats	Liver	Liver
48	chr11:85248600-85248800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr11:85248600-85249000	Weak transcription	Stomach Smooth Muscle	stomach
50	chr11:85248600-85251200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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