Variant report

Variant	esv2471612
Chromosome Location	chr11:85247530-85250711
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 158 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:158 , 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	rs533478588	chr11:85247549-85247550	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551476269	chr11:85247550-85247551	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560518470	chr11:85247564-85247565	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182414227	chr11:85247593-85247594	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549334006	chr11:85247595-85247596	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567581316	chr11:85247658-85247659	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537614077	chr11:85247672-85247673	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145765683	chr11:85247673-85247674	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571213341	chr11:85247693-85247694	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187090053	chr11:85247694-85247695	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76173711	chr11:85247698-85247699	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565364015	chr11:85247731-85247732	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142745041	chr11:85247732-85247733	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147383453	chr11:85247746-85247747	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574280240	chr11:85247750-85247751	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544441508	chr11:85247777-85247778	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537351050	chr11:85247804-85247805	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370843557	chr11:85247806-85247807	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556760336	chr11:85247813-85247814	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148342929	chr11:85247814-85247815	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191191250	chr11:85247829-85247830	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545546268	chr11:85247871-85247872	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141522080	chr11:85247902-85247903	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557335018	chr11:85247926-85247927	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112714755	chr11:85247942-85247943	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543064314	chr11:85247943-85247944	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560976883	chr11:85247948-85247949	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531643386	chr11:85247955-85247956	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549700426	chr11:85247971-85247972	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571464018	chr11:85247972-85247973	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7108137	chr11:85247973-85247974	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs547122639	chr11:85248000-85248001	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184612858	chr11:85248036-85248037	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs117857958	chr11:85248092-85248093	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150893333	chr11:85248117-85248118	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567857313	chr11:85248134-85248135	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139404885	chr11:85248136-85248137	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs57223077	chr11:85248141-85248142	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs578151497	chr11:85248159-85248160	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545634054	chr11:85248204-85248205	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554279101	chr11:85248234-85248235	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572573915	chr11:85248238-85248239	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543002856	chr11:85248239-85248240	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561373490	chr11:85248241-85248242	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188732176	chr11:85248273-85248274	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4280023	chr11:85248280-85248281	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs111816079	chr11:85248324-85248325	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532138220	chr11:85248337-85248338	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548308805	chr11:85248353-85248354	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565397161	chr11:85248357-85248358	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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	17899364	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
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	20844748	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Colorectal cancer	16912164	CNVD
Mental retardation	17847001	CNVD
Melanoma	19509136	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
Bipolar disorder	19114987	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ductal carcinoma	22052326	CNVD
Obesity	20622171	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85234000-85247600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:85235200-85251000	Weak transcription	Psoas Muscle	Psoas
3	chr11:85242600-85250200	Weak transcription	Fetal Heart	heart
4	chr11:85242800-85248000	Weak transcription	Ovary	ovary
5	chr11:85242800-85248400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr11:85242800-85250000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr11:85244600-85251400	Weak transcription	Brain Hippocampus Middle	brain
8	chr11:85244600-85251400	Weak transcription	Colon Smooth Muscle	Colon
9	chr11:85246000-85251000	Weak transcription	Right Ventricle	heart
10	chr11:85246200-85248200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr11:85246200-85250800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:85246400-85249000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr11:85246600-85248400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr11:85247000-85248800	ZNF genes & repeats	Aorta	Aorta
15	chr11:85247400-85248400	Strong transcription	Stomach Smooth Muscle	stomach
16	chr11:85247400-85248600	ZNF genes & repeats	Gastric	stomach
17	chr11:85247400-85248800	ZNF genes & repeats	Pancreas	Pancrea
18	chr11:85247600-85248800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:85247600-85248800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
20	chr11:85248000-85248800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
21	chr11:85248000-85248800	Strong transcription	Ovary	ovary
22	chr11:85248200-85248600	ZNF genes & repeats	Adipose Nuclei	Adipose
23	chr11:85248200-85248600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
24	chr11:85248200-85248800	ZNF genes & repeats	Lung	lung
25	chr11:85248400-85248600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
26	chr11:85248400-85248600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
27	chr11:85248400-85248600	ZNF genes & repeats	Stomach Smooth Muscle	stomach
28	chr11:85248400-85248800	ZNF genes & repeats	Liver	Liver
29	chr11:85248600-85248800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr11:85248600-85249000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr11:85248600-85251200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr11:85248600-85251400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr11:85248800-85250800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:85248800-85251000	Weak transcription	Ovary	ovary
35	chr11:85248800-85251200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:85248800-85251600	Weak transcription	Lung	lung
37	chr11:85248800-85252600	Weak transcription	Pancreas	Pancrea
38	chr11:85248800-85292000	Weak transcription	Aorta	Aorta
39	chr11:85249000-85251000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr11:85249800-85250000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:85249800-85252000	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr11:85250000-85250400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:85250000-85251800	Enhancers	HSMMtube	muscle
44	chr11:85250000-85252000	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr11:85250000-85252200	Enhancers	Fetal Muscle Leg	muscle
46	chr11:85250200-85250400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr11:85250200-85250400	Enhancers	H9 Cell Line	embryonic stem cell
48	chr11:85250200-85251600	Enhancers	Fetal Heart	heart
49	chr11:85250400-85250600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:85250400-85251000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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