Variant report

Variant	esv2427839
Chromosome Location	chr16:46428364-46428659
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201189244	chr16:46428364-46428365	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201907318	chr16:46428365-46428366	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150294174	chr16:46428366-46428367	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2128466	chr16:46428368-46428369	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9924941	chr16:46428379-46428380	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139486076	chr16:46428384-46428385	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4464243	chr16:46428388-46428389	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7185988	chr16:46428393-46428394	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs28788545	chr16:46428401-46428402	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9932061	chr16:46428404-46428405	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs9925000	chr16:46428406-46428407	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs13336135	chr16:46428411-46428412	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144511157	chr16:46428429-46428430	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139532541	chr16:46428432-46428433	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4635510	chr16:46428438-46428439	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6598741	chr16:46428443-46428444	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138979175	chr16:46428447-46428448	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs59578842	chr16:46428457-46428458	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4470174	chr16:46428458-46428459	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7405309	chr16:46428459-46428460	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs28851556	chr16:46428461-46428462	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs28816735	chr16:46428466-46428467	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs71244321	chr16:46428475-46428476	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142642161	chr16:46428478-46428479	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs13339292	chr16:46428485-46428486	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs28791494	chr16:46428488-46428489	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs28844310	chr16:46428491-46428492	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4570871	chr16:46428494-46428495	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs28756415	chr16:46428502-46428503	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9940623	chr16:46428505-46428506	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140459985	chr16:46428513-46428514	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150394862	chr16:46428525-46428526	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs58971652	chr16:46428536-46428537	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4611487	chr16:46428539-46428540	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs13331771	chr16:46428541-46428542	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141275797	chr16:46428549-46428550	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs59726894	chr16:46428559-46428560	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs28800334	chr16:46428567-46428568	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138073774	chr16:46428574-46428575	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7342796	chr16:46428594-46428595	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs28856568	chr16:46428598-46428599	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9745665	chr16:46428603-46428604	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs60239659	chr16:46428612-46428613	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7498463	chr16:46428617-46428618	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs28838943	chr16:46428618-46428619	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7186535	chr16:46428627-46428628	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9673860	chr16:46428632-46428633	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376379905	chr16:46428633-46428634	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13335240	chr16:46428639-46428640	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs13335242	chr16:46428642-46428643	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:66 , 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	chr16:46423200-46430400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
17	chr16:46423200-46430400	ZNF genes & repeats	Fetal Brain Male	brain
18	chr16:46423200-46430400	ZNF genes & repeats	Fetal Heart	heart
19	chr16:46423200-46430400	ZNF genes & repeats	Fetal Lung	lung
20	chr16:46423200-46430400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
21	chr16:46423200-46430400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
22	chr16:46424400-46430400	ZNF genes & repeats	HMEC	breast
23	chr16:46424600-46429200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
24	chr16:46424600-46430200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr16:46424600-46430200	ZNF genes & repeats	Brain Hippocampus Middle	brain
26	chr16:46424600-46430400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
27	chr16:46424800-46430200	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
28	chr16:46425000-46430200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
29	chr16:46425200-46428400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
30	chr16:46425200-46428600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
31	chr16:46425200-46428600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr16:46425200-46430200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
33	chr16:46425200-46430200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
34	chr16:46425200-46430200	ZNF genes & repeats	Rectal Smooth Muscle	rectum
35	chr16:46425200-46430200	ZNF genes & repeats	A549	lung
36	chr16:46425200-46430200	ZNF genes & repeats	Dnd41	blood
37	chr16:46425200-46430400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
38	chr16:46425200-46430400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr16:46425200-46430400	ZNF genes & repeats	Brain Anterior Caudate	brain
40	chr16:46425200-46430400	ZNF genes & repeats	Brain Substantia Nigra	brain
41	chr16:46425200-46430400	ZNF genes & repeats	Fetal Kidney	kidney
42	chr16:46425200-46430400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
43	chr16:46425200-46430400	ZNF genes & repeats	HUVEC	blood vessel
44	chr16:46425200-46430600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
45	chr16:46425400-46430200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
46	chr16:46425400-46430200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
47	chr16:46425400-46430200	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
48	chr16:46425400-46430200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
49	chr16:46425400-46430400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr16:46425400-46430400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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