Variant report

Variant	esv3356021
Chromosome Location	chr11:86757854-86761352
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2512370	chr11:86757881-86757882	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs2512485	chr11:86757921-86757922	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs527282448	chr11:86757955-86757956	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540635093	chr11:86757983-86757984	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560804912	chr11:86757985-86757986	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530025658	chr11:86758073-86758074	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114583892	chr11:86758089-86758090	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568435492	chr11:86758092-86758093	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141994404	chr11:86758104-86758105	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552692755	chr11:86758123-86758124	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146330690	chr11:86758128-86758129	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554655595	chr11:86758129-86758130	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534967061	chr11:86758137-86758138	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555023891	chr11:86758156-86758157	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568625218	chr11:86758184-86758185	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139285955	chr11:86758210-86758211	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557396831	chr11:86758255-86758256	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577364754	chr11:86758279-86758280	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186967813	chr11:86758315-86758316	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534418636	chr11:86758328-86758329	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558189519	chr11:86758338-86758339	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571812853	chr11:86758365-86758366	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149589650	chr11:86758374-86758375	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560957146	chr11:86758382-86758383	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376011361	chr11:86758383-86758384	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535888519	chr11:86758393-86758394	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563484706	chr11:86758399-86758400	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543556155	chr11:86758408-86758409	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564944093	chr11:86758440-86758441	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373231215	chr11:86758483-86758484	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566148612	chr11:86758504-86758505	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528610919	chr11:86758512-86758513	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548733179	chr11:86758528-86758529	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs61906196	chr11:86758533-86758534	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533574284	chr11:86758550-86758551	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568419195	chr11:86758551-86758552	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368656016	chr11:86758564-86758565	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545229459	chr11:86758569-86758570	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370558086	chr11:86758576-86758577	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558902406	chr11:86758626-86758627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs199512298	chr11:86758627-86758628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191384196	chr11:86758630-86758631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs199604298	chr11:86758657-86758658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571067186	chr11:86758664-86758665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539598974	chr11:86758698-86758699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377495339	chr11:86758708-86758709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4249913	chr11:86758714-86758715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371221661	chr11:86758717-86758718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374284369	chr11:86758732-86758733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113663033	chr11:86758733-86758734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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	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
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	21364760	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	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
Acute lymphoblastic leukemia	18458336	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Attention deficit hyperactivity disorder	22241247	CNVD
Breast cancer	21958427	CNVD
Breast cancer	17133270	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Obesity	20622171	CNVD

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86749600-86758200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:86749600-86766800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:86750000-86765800	Weak transcription	Placenta	Placenta
4	chr11:86750400-86760600	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr11:86750600-86759800	Weak transcription	Fetal Thymus	thymus
6	chr11:86750600-86760600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr11:86750800-86758600	Weak transcription	HSMM	muscle
8	chr11:86750800-86759800	Weak transcription	HSMMtube	muscle
9	chr11:86750800-86760000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr11:86750800-86760200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr11:86750800-86780600	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr11:86750800-86782000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr11:86750800-86787400	Weak transcription	A549	lung
14	chr11:86751000-86760000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr11:86751000-86786800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr11:86751000-86787400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:86751200-86762600	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr11:86751200-86785600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:86751400-86758400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr11:86751400-86759800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr11:86751400-86767800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr11:86751400-86786400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr11:86751600-86787000	Weak transcription	Aorta	Aorta
24	chr11:86752000-86768800	Weak transcription	Ovary	ovary
25	chr11:86752000-86768800	Weak transcription	Psoas Muscle	Psoas
26	chr11:86752200-86759800	Weak transcription	Fetal Brain Male	brain
27	chr11:86752200-86768800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr11:86752400-86758200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr11:86752400-86762400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:86753000-86758000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:86753200-86758000	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr11:86753400-86760200	Weak transcription	Brain Anterior Caudate	brain
33	chr11:86753800-86758400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:86754200-86758400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:86754800-86758200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
36	chr11:86754800-86758400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr11:86754800-86759600	Weak transcription	Fetal Muscle Trunk	muscle
38	chr11:86755000-86758400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:86755200-86758800	Weak transcription	Brain Substantia Nigra	brain
40	chr11:86755200-86779000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:86755400-86780200	Weak transcription	Adipose Nuclei	Adipose
42	chr11:86755400-86780400	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr11:86755600-86768600	Weak transcription	Liver	Liver
44	chr11:86755800-86770200	Weak transcription	Fetal Stomach	stomach
45	chr11:86756000-86758600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:86756400-86782800	Weak transcription	Fetal Intestine Small	intestine
47	chr11:86756800-86758200	ZNF genes & repeats	K562	blood
48	chr11:86756800-86768400	Weak transcription	Brain Hippocampus Middle	brain
49	chr11:86756800-86772400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr11:86757200-86758200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain

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