Variant report

Variant	esv3332666
Chromosome Location	chr11:120746527-120747270
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541457883	chr11:120746537-120746538	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577547068	chr11:120746547-120746548	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544670690	chr11:120746579-120746580	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559484748	chr11:120746619-120746620	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574736961	chr11:120746701-120746702	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541862765	chr11:120746725-120746726	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73584413	chr11:120746764-120746765	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs200846119	chr11:120746823-120746824	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371829851	chr11:120746847-120746848	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74978271	chr11:120746853-120746854	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77007004	chr11:120746861-120746862	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140868367	chr11:120746872-120746873	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201365060	chr11:120746884-120746885	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs367690815	chr11:120746927-120746928	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370354485	chr11:120746936-120746937	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563044619	chr11:120746969-120746970	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200498739	chr11:120746973-120746974	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376127843	chr11:120746986-120746987	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112199574	chr11:120746988-120746989	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144598093	chr11:120746989-120746990	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs202148114	chr11:120746997-120746998	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200235174	chr11:120747012-120747013	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372536340	chr11:120747039-120747040	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371820575	chr11:120747067-120747068	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111400423	chr11:120747071-120747072	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147184344	chr11:120747085-120747086	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114404393	chr11:120747100-120747101	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79098379	chr11:120747102-120747103	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112411996	chr11:120747106-120747107	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528361122	chr11:120747108-120747109	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140854493	chr11:120747113-120747114	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs386758163	chr11:120747121-120747122	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111908833	chr11:120747140-120747141	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369077974	chr11:120747163-120747164	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201838591	chr11:120747188-120747189	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138466739	chr11:120747196-120747197	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375152433	chr11:120747211-120747212	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115234232	chr11:120747259-120747260	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	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
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
Glioblastoma multiforme	21080181	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Ovarian cancer	21720365	CNVD
Neuroblastoma	17327916	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Renal cell carcinoma	21668985	CNVD
Developmental delay	21147756	CNVD
Squamous cell cancer	20885788	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Neurocytoma	17123091	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Central neurocytomas	17123091	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	16750200	CNVD
Multiple myeloma	17550852	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Acute myeloid leukemia	19651601	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	20409316	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Heart disease	20551144	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Autism	22543975	CNVD
Breast cancer	21509527	CNVD
Barrett''s syndrome	19417022	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21385341	CNVD
Multiple myeloma	16461302	CNVD
Burkitt''s lymphoma	18698080	CNVD
Prostate cancer	23792589	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120704400-120748800	Weak transcription	Brain Substantia Nigra	brain
2	chr11:120714400-120746600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr11:120729200-120751200	Weak transcription	Ovary	ovary
4	chr11:120730000-120746600	Weak transcription	Fetal Lung	lung
5	chr11:120738600-120746800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:120738600-120747400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:120738600-120755600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr11:120739000-120749200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr11:120739200-120755600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr11:120740200-120748200	Weak transcription	Brain Germinal Matrix	brain
11	chr11:120740200-120752400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:120740400-120752600	Weak transcription	Fetal Brain Male	brain
13	chr11:120742600-120746800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr11:120743200-120747600	Strong transcription	Brain Anterior Caudate	brain
15	chr11:120744000-120746800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr11:120745000-120747400	Strong transcription	Brain Cingulate Gyrus	brain
17	chr11:120745000-120752400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:120745000-120754200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr11:120745200-120747200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr11:120745200-120747200	Strong transcription	Brain Angular Gyrus	brain
21	chr11:120746000-120746800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr11:120746000-120747600	Strong transcription	Brain Hippocampus Middle	brain
23	chr11:120746200-120754600	Weak transcription	Spleen	Spleen
24	chr11:120746400-120748600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr11:120746600-120747200	Strong transcription	Brain Inferior Temporal Lobe	brain
26	chr11:120746600-120748400	Strong transcription	Fetal Lung	lung
27	chr11:120746800-120747200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr11:120746800-120747200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
29	chr11:120746800-120747200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:120746800-120747200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr11:120747000-120747200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:120747200-120750800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:120747200-120752200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:120747200-120752600	Weak transcription	Brain Angular Gyrus	brain
35	chr11:120747200-120753600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr11:120747200-120753800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr11:120747200-120754000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr11:120747200-120754400	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr11:120747200-120754600	Weak transcription	Brain Inferior Temporal Lobe	brain

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