Variant report

Variant	nsv1041968
Chromosome Location	chr11:84161961-84185235
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:84176346..84177970-chr11:84178773..84180913,2	K562	blood:
2	chr11:84176346..84177970-chr11:84178773..84180913,2	K562	blood:

Extended variants
information (count: 532 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:532 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80245688	chr11:84163013-84163014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149408440	chr11:84163024-84163025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562482721	chr11:84163026-84163027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186886744	chr11:84163032-84163033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs5793122	chr11:84163156-84163157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544853725	chr11:84163186-84163187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144778195	chr11:84163188-84163189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556912441	chr11:84163212-84163213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148436617	chr11:84163232-84163233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546812142	chr11:84163238-84163239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141682478	chr11:84163242-84163243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529354803	chr11:84163296-84163297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs79104446	chr11:84163355-84163356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs111701890	chr11:84164614-84164615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11234032	chr11:84164615-84164616	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs561069270	chr11:84164617-84164618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375278581	chr11:84164813-84164814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs369442967	chr11:84164814-84164815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs373429950	chr11:84164816-84164817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139180367	chr11:84165001-84165002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78329525	chr11:84165004-84165005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551741846	chr11:84165027-84165028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560246982	chr11:84165087-84165088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183554455	chr11:84165098-84165099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs36054888	chr11:84165121-84165122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549384038	chr11:84165154-84165155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567532813	chr11:84165176-84165177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs10898238	chr11:84165251-84165252	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs531746060	chr11:84165305-84165306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs17147363	chr11:84165325-84165326	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs571004785	chr11:84165345-84165346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371523149	chr11:84165350-84165351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188616978	chr11:84165360-84165361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs111568034	chr11:84165386-84165387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529904012	chr11:84165391-84165392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547942899	chr11:84165417-84165418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571903299	chr11:84165431-84165432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192924625	chr11:84165432-84165433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554870324	chr11:84165440-84165441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576340376	chr11:84165515-84165516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs78139105	chr11:84165517-84165518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs76371861	chr11:84165635-84165636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532648723	chr11:84165675-84165676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572016676	chr11:84165697-84165698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539329395	chr11:84165707-84165708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184699114	chr11:84165731-84165732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188069723	chr11:84165732-84165733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs372440027	chr11:84165749-84165750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs144987981	chr11:84165759-84165760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs560554115	chr11:84165777-84165778	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
small cell lung cancer	20016488	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
Cancer	20164920	CNVD
Obesity	20622171	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Developmental delay	21147756	CNVD
Bipolar disorder	19114987	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ductal carcinoma	22052326	CNVD
Autism	19246517	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:84163000-84163400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:84164600-84167600	Enhancers	Fetal Stomach	stomach
3	chr11:84173200-84174400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:84173400-84174200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr11:84173400-84174400	Enhancers	NH-A	brain
6	chr11:84173400-84174800	Enhancers	Adipose Nuclei	Adipose
7	chr11:84174000-84174200	Enhancers	Osteobl	bone
8	chr11:84174000-84176800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr11:84174200-84174400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr11:84174200-84174400	Enhancers	Brain Germinal Matrix	brain
11	chr11:84174200-84174600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr11:84174200-84175800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr11:84174400-84175800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:84174400-84179200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr11:84174600-84175800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:84174800-84176000	Weak transcription	Adipose Nuclei	Adipose
17	chr11:84175800-84176000	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr11:84175800-84176400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr11:84175800-84176800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr11:84176000-84176200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:84176000-84176400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr11:84176000-84176400	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr11:84176000-84176400	Enhancers	Osteobl	bone
24	chr11:84176000-84176600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:84176000-84176600	Enhancers	Adipose Nuclei	Adipose
26	chr11:84176000-84176600	Enhancers	Brain Germinal Matrix	brain
27	chr11:84176000-84176800	Enhancers	Fetal Brain Male	brain
28	chr11:84176200-84176600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:84176200-84176600	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr11:84176600-84184000	Weak transcription	Adipose Nuclei	Adipose
31	chr11:84176800-84179200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:84176800-84179200	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr11:84179200-84179600	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr11:84179200-84179600	Enhancers	Fetal Kidney	kidney
35	chr11:84179200-84179800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr11:84179200-84180200	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr11:84179400-84179600	Enhancers	H1 Cell Line	embryonic stem cell
38	chr11:84179400-84179600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:84179600-84180000	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr11:84179600-84181400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr11:84179600-84182000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr11:84179800-84182200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr11:84180000-84181200	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr11:84180200-84186600	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr11:84181200-84182200	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr11:84181200-84182400	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr11:84181400-84182200	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr11:84181400-84182400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr11:84181600-84184600	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr11:84181800-84182200	Enhancers	HUES48 Cell Line	embryonic stem cell

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