Variant report

Variant	esv3472097
Chromosome Location	chr11:102303456-102307576
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:102306119..102309748-chr11:102314696..102317060,3	K562	blood:
2	chr11:102234586..102236532-chr11:102307428..102308974,2	K562	blood:
3	chr11:102306851..102309748-chr11:102315391..102317524,3	K562	blood:

Extended variants
information (count: 175 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:175 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540380838	chr11:102303486-102303487	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182829919	chr11:102303487-102303488	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577048103	chr11:102303496-102303497	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531916737	chr11:102303509-102303510	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545955371	chr11:102303537-102303538	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150183634	chr11:102303548-102303549	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs111338282	chr11:102303586-102303587	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548852616	chr11:102303614-102303615	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374059845	chr11:102303667-102303668	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138824129	chr11:102303676-102303677	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs527238959	chr11:102303686-102303687	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192680634	chr11:102303746-102303747	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs71478581	chr11:102303767-102303768	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570526553	chr11:102303776-102303777	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs113072224	chr11:102303829-102303830	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183307790	chr11:102303859-102303860	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187449141	chr11:102303861-102303862	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569830932	chr11:102303877-102303878	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191525793	chr11:102303891-102303892	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377197122	chr11:102303896-102303897	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555595579	chr11:102303925-102303926	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562206033	chr11:102303947-102303948	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568368457	chr11:102303954-102303955	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533907894	chr11:102303991-102303992	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184780069	chr11:102304000-102304001	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576959901	chr11:102304013-102304014	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545887552	chr11:102304016-102304017	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370375334	chr11:102304047-102304048	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184079184	chr11:102304053-102304054	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576536451	chr11:102304056-102304057	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145918617	chr11:102304070-102304071	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189412769	chr11:102304084-102304085	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113430038	chr11:102304118-102304119	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531177434	chr11:102304149-102304150	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs4754845	chr11:102304210-102304211	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs34039883	chr11:102304266-102304267	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144487487	chr11:102304316-102304317	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556026847	chr11:102304322-102304323	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112644340	chr11:102304363-102304364	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539147381	chr11:102304368-102304369	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564270826	chr11:102304383-102304384	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533239366	chr11:102304386-102304387	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574248365	chr11:102304401-102304402	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549894164	chr11:102304464-102304465	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113193038	chr11:102304473-102304474	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544386353	chr11:102304498-102304499	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546658109	chr11:102304516-102304517	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376020206	chr11:102304517-102304518	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549032962	chr11:102304525-102304526	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200566647	chr11:102304526-102304527	Weak transcription ZNF genes & repeats Strong transcription	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:232 , 50 per page) page: 1 2 3 4 5

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	chr11:102297800-102303800	Genic enhancers	HepG2	liver
6	chr11:102298200-102316000	Weak transcription	Fetal Lung	lung
7	chr11:102298400-102303600	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr11:102300400-102319800	Weak transcription	Fetal Kidney	kidney
9	chr11:102300800-102316600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:102300800-102320600	Weak transcription	Ovary	ovary
11	chr11:102301200-102303600	Weak transcription	Placenta	Placenta
12	chr11:102301200-102303800	Weak transcription	Colonic Mucosa	Colon
13	chr11:102301200-102320800	Weak transcription	Left Ventricle	heart
14	chr11:102301400-102303600	Weak transcription	Liver	Liver
15	chr11:102301400-102316200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr11:102301400-102316600	Weak transcription	NHLF	lung
17	chr11:102301400-102319800	Weak transcription	Pancreas	Pancrea
18	chr11:102301400-102320600	Weak transcription	Right Ventricle	heart
19	chr11:102301400-102320800	Weak transcription	Adipose Nuclei	Adipose
20	chr11:102301400-102321000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr11:102301400-102322400	Weak transcription	Spleen	Spleen
22	chr11:102301600-102303600	Weak transcription	Brain Germinal Matrix	brain
23	chr11:102301600-102303800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr11:102301600-102307400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr11:102301600-102307600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr11:102301600-102308400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr11:102301600-102309000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr11:102301600-102316600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr11:102301800-102303800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr11:102301800-102305800	Weak transcription	Brain Substantia Nigra	brain
31	chr11:102301800-102306200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr11:102301800-102309200	Weak transcription	Colon Smooth Muscle	Colon
33	chr11:102301800-102309600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:102301800-102316800	Weak transcription	HSMMtube	muscle
35	chr11:102302000-102304600	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr11:102302200-102304000	ZNF genes & repeats	Brain Hippocampus Middle	brain
37	chr11:102302200-102305000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr11:102302200-102305800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr11:102302200-102306600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
40	chr11:102302400-102304000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
41	chr11:102302400-102304600	Strong transcription	Primary T cells from cord blood	blood
42	chr11:102302400-102307400	Weak transcription	Brain Anterior Caudate	brain
43	chr11:102302400-102308600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:102302400-102309600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr11:102302400-102309600	ZNF genes & repeats	GM12878-XiMat	blood
46	chr11:102302400-102318000	Weak transcription	Small Intestine	intestine
47	chr11:102302600-102304000	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr11:102302600-102304000	Strong transcription	A549	lung
49	chr11:102302600-102304200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
50	chr11:102302600-102304400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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