Variant report

Variant	esv2484083
Chromosome Location	chr11:74531782-74533314
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:74526254..74528422-chr11:74532090..74534195,2	MCF-7	breast:
2	chr11:74525648..74527452-chr11:74528928..74531947,3	K562	blood:
3	chr11:74531301..74533509-chr20:52536139..52539036,2	MCF-7	breast:

Extended variants
information (count: 50 )
Associated
traits (count: 99 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185214386	chr11:74531910-74531911	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs5792673	chr11:74531961-74531962	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546696317	chr11:74531981-74531982	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190812959	chr11:74531993-74531994	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560641082	chr11:74532010-74532011	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182034207	chr11:74532036-74532037	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561589	chr11:74532093-74532094	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs540450068	chr11:74532128-74532129	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538134529	chr11:74532157-74532158	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548145787	chr11:74532202-74532203	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568250249	chr11:74532219-74532220	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143082581	chr11:74532228-74532229	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571193753	chr11:74532238-74532239	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576913558	chr11:74532261-74532262	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561900304	chr11:74532288-74532289	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186930423	chr11:74532334-74532335	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556126064	chr11:74532417-74532418	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575984545	chr11:74532420-74532421	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs113887130	chr11:74532424-74532425	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562214413	chr11:74532469-74532470	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs113948898	chr11:74532484-74532485	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs373669925	chr11:74532485-74532486	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs111399456	chr11:74532497-74532498	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12279113	chr11:74532590-74532591	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10899044	chr11:74532594-74532595	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
26	rs1316210	chr11:74532681-74532682	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1303563	chr11:74532689-74532690	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1303562	chr11:74532697-74532698	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191590341	chr11:74532809-74532810	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529075173	chr11:74532842-74532843	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs183159719	chr11:74532896-74532897	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs79384612	chr11:74532911-74532912	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545856190	chr11:74532914-74532915	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs11827626	chr11:74532921-74532922	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs186401511	chr11:74532926-74532927	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs368381625	chr11:74532976-74532977	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562627937	chr11:74532979-74532980	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs190377975	chr11:74533004-74533005	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs549892814	chr11:74533064-74533065	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs202096207	chr11:74533072-74533073	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs375488345	chr11:74533073-74533074	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs143106040	chr11:74533074-74533075	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs564544767	chr11:74533088-74533089	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs139466765	chr11:74533154-74533155	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs115339112	chr11:74533227-74533228	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs551042824	chr11:74533239-74533240	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs539551803	chr11:74533260-74533261	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs149258222	chr11:74533272-74533273	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs144492583	chr11:74533275-74533276	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs139598145	chr11:74533311-74533312	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	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
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chordoma	21602918	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	21364760	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Urothelial cell carcinoma	18451213	CNVD
Leukoplakia	24403051	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:241 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74496200-74533000	Weak transcription	Fetal Brain Male	brain
2	chr11:74502800-74545600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:74503000-74533000	Weak transcription	Right Ventricle	heart
4	chr11:74503200-74533000	Weak transcription	Gastric	stomach
5	chr11:74503200-74537800	Weak transcription	Pancreas	Pancrea
6	chr11:74504400-74534600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr11:74509600-74533000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:74509800-74534600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr11:74515400-74533000	Weak transcription	Esophagus	oesophagus
10	chr11:74519800-74534200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr11:74520000-74533000	Weak transcription	Small Intestine	intestine
12	chr11:74520400-74533200	Strong transcription	Dnd41	blood
13	chr11:74520600-74534400	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr11:74520600-74534800	Strong transcription	Primary B cells from peripheral blood	blood
15	chr11:74520800-74537800	Weak transcription	Colonic Mucosa	Colon
16	chr11:74524800-74535800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr11:74525400-74534400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:74526400-74534400	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr11:74526600-74534000	Strong transcription	Primary B cells from cord blood	blood
20	chr11:74527000-74533000	Weak transcription	Spleen	Spleen
21	chr11:74527200-74534800	Strong transcription	Fetal Intestine Large	intestine
22	chr11:74527400-74533000	Strong transcription	Primary hematopoietic stem cells	blood
23	chr11:74527600-74531800	Strong transcription	Fetal Lung	lung
24	chr11:74527600-74532000	Strong transcription	Duodenum Mucosa	Duodenum
25	chr11:74527600-74532200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:74527600-74532200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr11:74527800-74532400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr11:74527800-74534000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr11:74527800-74534400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr11:74527800-74534600	Strong transcription	Fetal Muscle Trunk	muscle
31	chr11:74527800-74534800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr11:74528000-74532400	Strong transcription	Liver	Liver
33	chr11:74528000-74533000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:74528000-74534000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr11:74528000-74576400	Weak transcription	Stomach Mucosa	stomach
36	chr11:74528200-74534000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr11:74528400-74531800	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr11:74528400-74533200	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr11:74528400-74535000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr11:74528400-74535600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr11:74528600-74532200	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr11:74528600-74532400	Strong transcription	Fetal Muscle Leg	muscle
43	chr11:74528600-74533800	Strong transcription	Adipose Nuclei	Adipose
44	chr11:74528800-74533000	Weak transcription	Right Atrium	heart
45	chr11:74528800-74537800	Weak transcription	Lung	lung
46	chr11:74529200-74533000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr11:74529400-74532200	Genic enhancers	Fetal Stomach	stomach
48	chr11:74529400-74533000	Weak transcription	Aorta	Aorta
49	chr11:74529400-74533000	Weak transcription	Brain Germinal Matrix	brain
50	chr11:74529600-74532000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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