Variant report

Variant	nsv556146
Chromosome Location	chr11:102304838-102307343
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	chr11:102306119..102309748-chr11:102314696..102317060,3	K562	blood:
2	chr11:102306851..102309748-chr11:102315391..102317524,3	K562	blood:

Extended variants
information (count: 105 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541743890	chr11:102304849-102304850	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537270779	chr11:102304872-102304873	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185151056	chr11:102304944-102304945	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35103522	chr11:102304948-102304949	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532916288	chr11:102304969-102304970	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543546036	chr11:102305007-102305008	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563371740	chr11:102305058-102305059	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575632208	chr11:102305099-102305100	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs76054887	chr11:102305105-102305106	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11225255	chr11:102305141-102305142	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559262836	chr11:102305170-102305171	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528408304	chr11:102305189-102305190	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12276134	chr11:102305195-102305196	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs76479943	chr11:102305200-102305201	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372163176	chr11:102305217-102305218	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539417553	chr11:102305225-102305226	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372707111	chr11:102305299-102305300	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190389559	chr11:102305329-102305330	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144506296	chr11:102305383-102305384	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555972526	chr11:102305385-102305386	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572793790	chr11:102305386-102305387	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572669293	chr11:102305398-102305399	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552747481	chr11:102305453-102305454	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181120789	chr11:102305454-102305455	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558446819	chr11:102305488-102305489	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375476717	chr11:102305489-102305490	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543373924	chr11:102305525-102305526	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572806553	chr11:102305535-102305536	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561561563	chr11:102305548-102305549	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371135891	chr11:102305599-102305600	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563124945	chr11:102305648-102305649	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377575581	chr11:102305663-102305664	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374499892	chr11:102305699-102305700	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542356193	chr11:102305717-102305718	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186566696	chr11:102305723-102305724	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188040645	chr11:102305753-102305754	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551281117	chr11:102305762-102305763	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs75495275	chr11:102305772-102305773	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530699942	chr11:102305787-102305788	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550176567	chr11:102305788-102305789	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569947163	chr11:102305818-102305819	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575828533	chr11:102305851-102305852	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535985878	chr11:102305884-102305885	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs180893613	chr11:102305892-102305893	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566280823	chr11:102305907-102305908	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs12146693	chr11:102305998-102305999	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs368407327	chr11:102306013-102306014	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs114171606	chr11:102306071-102306072	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs112854674	chr11:102306133-102306134	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533301006	chr11:102306159-102306160	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	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
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	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	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	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
Melanoma	22183965	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal cancer	21851588	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Colorectal cancer	16912164	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:156 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102284600-102308600	Weak transcription	Lung	lung
2	chr11:102291600-102307800	Weak transcription	K562	blood
3	chr11:102293000-102316000	Weak transcription	HUVEC	blood vessel
4	chr11:102295400-102307600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr11:102298200-102316000	Weak transcription	Fetal Lung	lung
6	chr11:102300400-102319800	Weak transcription	Fetal Kidney	kidney
7	chr11:102300800-102316600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:102300800-102320600	Weak transcription	Ovary	ovary
9	chr11:102301200-102320800	Weak transcription	Left Ventricle	heart
10	chr11:102301400-102316200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr11:102301400-102316600	Weak transcription	NHLF	lung
12	chr11:102301400-102319800	Weak transcription	Pancreas	Pancrea
13	chr11:102301400-102320600	Weak transcription	Right Ventricle	heart
14	chr11:102301400-102320800	Weak transcription	Adipose Nuclei	Adipose
15	chr11:102301400-102321000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr11:102301400-102322400	Weak transcription	Spleen	Spleen
17	chr11:102301600-102307400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr11:102301600-102307600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:102301600-102308400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr11:102301600-102309000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr11:102301600-102316600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr11:102301800-102305800	Weak transcription	Brain Substantia Nigra	brain
23	chr11:102301800-102306200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr11:102301800-102309200	Weak transcription	Colon Smooth Muscle	Colon
25	chr11:102301800-102309600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:102301800-102316800	Weak transcription	HSMMtube	muscle
27	chr11:102302200-102305000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr11:102302200-102305800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:102302200-102306600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
30	chr11:102302400-102307400	Weak transcription	Brain Anterior Caudate	brain
31	chr11:102302400-102308600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:102302400-102309600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr11:102302400-102309600	ZNF genes & repeats	GM12878-XiMat	blood
34	chr11:102302400-102318000	Weak transcription	Small Intestine	intestine
35	chr11:102302600-102305200	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr11:102302600-102305200	Weak transcription	HSMM	muscle
37	chr11:102302600-102306200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr11:102302600-102306400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:102302600-102306400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr11:102302600-102306600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
41	chr11:102302600-102307600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr11:102302800-102307600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr11:102303000-102306800	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr11:102303400-102305200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
45	chr11:102303400-102306600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:102303400-102306600	ZNF genes & repeats	Dnd41	blood
47	chr11:102303600-102306600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
48	chr11:102303800-102306000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr11:102303800-102309000	Strong transcription	HepG2	liver
50	chr11:102304000-102306000	Weak transcription	Primary T helper cells PMA-I stimulated	--

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