Variant report

Variant	esv3405705
Chromosome Location	chr16:46426531-46427548
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 203 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:203 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62021644	chr16:46426531-46426532	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576676159	chr16:46426536-46426537	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs62021645	chr16:46426540-46426541	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs72535061	chr16:46426546-46426547	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373315201	chr16:46426547-46426548	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544137490	chr16:46426550-46426551	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372171204	chr16:46426551-46426552	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201925307	chr16:46426552-46426553	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs199979671	chr16:46426553-46426554	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77535618	chr16:46426554-46426555	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs58884967	chr16:46426555-46426556	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs58179133	chr16:46426556-46426557	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377331690	chr16:46426560-46426561	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370827179	chr16:46426564-46426565	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373806988	chr16:46426565-46426566	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377498958	chr16:46426566-46426567	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370369120	chr16:46426571-46426572	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374227145	chr16:46426574-46426575	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79645547	chr16:46426576-46426577	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556051437	chr16:46426583-46426584	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs57403353	chr16:46426592-46426593	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs57611989	chr16:46426598-46426599	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201992801	chr16:46426601-46426602	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs60007914	chr16:46426604-46426605	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs62021647	chr16:46426607-46426608	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541058700	chr16:46426608-46426609	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs60554939	chr16:46426616-46426617	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74398918	chr16:46426617-46426618	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533286118	chr16:46426623-46426624	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545063339	chr16:46426625-46426626	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563148250	chr16:46426626-46426627	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530570091	chr16:46426628-46426629	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548911686	chr16:46426632-46426633	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs59757307	chr16:46426636-46426637	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs57006969	chr16:46426637-46426638	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562272744	chr16:46426638-46426639	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374422390	chr16:46426639-46426640	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368351816	chr16:46426640-46426641	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528121542	chr16:46426641-46426642	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs60018322	chr16:46426645-46426646	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546256247	chr16:46426646-46426647	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs58171612	chr16:46426648-46426649	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs74221515	chr16:46426649-46426650	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs59908162	chr16:46426651-46426652	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs57788152	chr16:46426660-46426661	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145794786	chr16:46426662-46426663	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs60630740	chr16:46426663-46426664	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150957643	chr16:46426664-46426665	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538753605	chr16:46426669-46426670	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145108747	chr16:46426670-46426671	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:127 , 50 per page) page: 1 2 3

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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