Variant report

Variant	esv2533202
Chromosome Location	chr16:46426380-46426542
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs67934620	chr16:46426384-46426385	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370852705	chr16:46426387-46426388	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs57242063	chr16:46426390-46426391	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs71226247	chr16:46426391-46426392	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs74210613	chr16:46426392-46426393	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs60162880	chr16:46426393-46426394	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373561566	chr16:46426395-46426396	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376585449	chr16:46426400-46426401	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs61067070	chr16:46426406-46426407	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs137992504	chr16:46426409-46426410	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370617222	chr16:46426414-46426415	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375017436	chr16:46426415-46426416	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74215042	chr16:46426417-46426418	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs367696371	chr16:46426422-46426423	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74187188	chr16:46426423-46426424	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370141487	chr16:46426424-46426425	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374641163	chr16:46426426-46426427	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536961728	chr16:46426432-46426433	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs55954380	chr16:46426436-46426437	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74222175	chr16:46426437-46426438	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74192744	chr16:46426439-46426440	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74204342	chr16:46426446-46426447	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs62021632	chr16:46426447-46426448	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74210168	chr16:46426448-46426449	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs74220238	chr16:46426449-46426450	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368739074	chr16:46426450-46426451	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372072059	chr16:46426451-46426452	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376405592	chr16:46426452-46426453	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368168328	chr16:46426453-46426454	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548822919	chr16:46426457-46426458	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs62021633	chr16:46426461-46426462	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs55951044	chr16:46426462-46426463	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs55975244	chr16:46426463-46426464	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs62021635	chr16:46426465-46426466	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74198535	chr16:46426468-46426469	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62021636	chr16:46426472-46426473	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4569450	chr16:46426474-46426475	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374371783	chr16:46426476-46426477	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74320965	chr16:46426477-46426478	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs56276208	chr16:46426478-46426479	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371624101	chr16:46426484-46426485	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374855265	chr16:46426486-46426487	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62021638	chr16:46426488-46426489	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368974288	chr16:46426489-46426490	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs62021639	chr16:46426492-46426493	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553071623	chr16:46426493-46426494	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372981764	chr16:46426496-46426497	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs55756773	chr16:46426497-46426498	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs76543460	chr16:46426503-46426504	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs55959326	chr16:46426505-46426506	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164920	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Autism	19955444	CNVD
Schizophrenia	19955444	CNVD
Renal cell carcinoma	18765545	CNVD
Sudden cardiac death	19188705	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46404800-46430400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
2	chr16:46415200-46430400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr16:46416800-46430400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr16:46416800-46430400	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr16:46419800-46444400	ZNF genes & repeats	Primary T cells from cord blood	blood
6	chr16:46422200-46430400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr16:46422800-46430400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
8	chr16:46422800-46430400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr16:46423000-46430000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
10	chr16:46423000-46430400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr16:46423000-46430400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
12	chr16:46423000-46430400	ZNF genes & repeats	Liver	Liver
13	chr16:46423000-46430400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
14	chr16:46423000-46430400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
15	chr16:46423000-46433200	ZNF genes & repeats	Primary B cells from cord blood	blood
16	chr16:46423200-46428200	ZNF genes & repeats	Colon Smooth Muscle	Colon
17	chr16:46423200-46430400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
18	chr16:46423200-46430400	ZNF genes & repeats	Fetal Brain Male	brain
19	chr16:46423200-46430400	ZNF genes & repeats	Fetal Heart	heart
20	chr16:46423200-46430400	ZNF genes & repeats	Fetal Lung	lung
21	chr16:46423200-46430400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
22	chr16:46423200-46430400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
23	chr16:46424400-46430400	ZNF genes & repeats	HMEC	breast
24	chr16:46424600-46428200	ZNF genes & repeats	Left Ventricle	heart
25	chr16:46424600-46429200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
26	chr16:46424600-46430200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr16:46424600-46430200	ZNF genes & repeats	Brain Hippocampus Middle	brain
28	chr16:46424600-46430400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
29	chr16:46424800-46430200	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
30	chr16:46425000-46428000	ZNF genes & repeats	Gastric	stomach
31	chr16:46425000-46430200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
32	chr16:46425200-46426600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr16:46425200-46426600	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
34	chr16:46425200-46428000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
35	chr16:46425200-46428000	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
36	chr16:46425200-46428000	ZNF genes & repeats	Fetal Intestine Large	intestine
37	chr16:46425200-46428000	ZNF genes & repeats	HSMMtube	muscle
38	chr16:46425200-46428000	ZNF genes & repeats	Osteobl	bone
39	chr16:46425200-46428200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr16:46425200-46428200	ZNF genes & repeats	GM12878-XiMat	blood
41	chr16:46425200-46428200	ZNF genes & repeats	NH-A	brain
42	chr16:46425200-46428400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
43	chr16:46425200-46428600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
44	chr16:46425200-46428600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr16:46425200-46430200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
46	chr16:46425200-46430200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
47	chr16:46425200-46430200	ZNF genes & repeats	Rectal Smooth Muscle	rectum
48	chr16:46425200-46430200	ZNF genes & repeats	A549	lung
49	chr16:46425200-46430200	ZNF genes & repeats	Dnd41	blood
50	chr16:46425200-46430400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood

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