Variant report

Variant	esv2468407
Chromosome Location	chr16:46404785-46405092
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 218 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:218 , 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	rs9328616	chr16:46404785-46404786	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs60590538	chr16:46404786-46404787	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs28880955	chr16:46404787-46404788	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs60283750	chr16:46404788-46404789	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs28827508	chr16:46404789-46404790	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs9673232	chr16:46404790-46404791	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs28756519	chr16:46404791-46404792	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs6650583	chr16:46404792-46404793	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs28814935	chr16:46404793-46404794	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs58294192	chr16:46404794-46404795	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs28772943	chr16:46404795-46404796	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs28803268	chr16:46404796-46404797	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs28863584	chr16:46404797-46404798	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs12446468	chr16:46404800-46404801	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs59872609	chr16:46404801-46404802	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs61489024	chr16:46404802-46404803	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs28838978	chr16:46404803-46404804	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs56157224	chr16:46404806-46404807	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs9328617	chr16:46404807-46404808	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs4967113	chr16:46404809-46404810	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs28878473	chr16:46404810-46404811	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs9673807	chr16:46404812-46404813	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs4371174	chr16:46404814-46404815	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs28843532	chr16:46404815-46404816	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs28860276	chr16:46404816-46404817	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs9933529	chr16:46404818-46404819	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs28766298	chr16:46404819-46404820	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs4368181	chr16:46404820-46404821	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs55921315	chr16:46404821-46404822	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs28768691	chr16:46404823-46404824	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs28804138	chr16:46404824-46404825	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs28751004	chr16:46404826-46404827	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs9673936	chr16:46404828-46404829	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs144439789	chr16:46404829-46404830	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs28839476	chr16:46404830-46404831	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs55761252	chr16:46404831-46404832	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs61667411	chr16:46404833-46404834	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs9746150	chr16:46404834-46404835	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
39	rs4967115	chr16:46404835-46404836	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs61088579	chr16:46404839-46404840	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs4966503	chr16:46404840-46404841	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs59824265	chr16:46404842-46404843	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs150329609	chr16:46404843-46404844	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
44	rs12325353	chr16:46404844-46404845	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
45	rs9673937	chr16:46404845-46404846	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
46	rs56961595	chr16:46404846-46404847	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs59383876	chr16:46404847-46404848	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs28830803	chr16:46404849-46404850	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs28815620	chr16:46404850-46404851	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
50	rs61139760	chr16:46404852-46404853	ZNF genes & repeats Flanking Bivalent TSS/Enh	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:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46398000-46414400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr16:46398000-46416000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr16:46403800-46404800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr16:46403800-46404800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr16:46403800-46404800	Weak transcription	Aorta	Aorta
6	chr16:46403800-46404800	Weak transcription	Esophagus	oesophagus
7	chr16:46403800-46404800	Weak transcription	Lung	lung
8	chr16:46404000-46404800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr16:46404000-46404800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr16:46404000-46404800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr16:46404000-46404800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr16:46404000-46404800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr16:46404000-46404800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr16:46404000-46404800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr16:46404000-46404800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr16:46404000-46404800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr16:46404000-46404800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr16:46404000-46404800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr16:46404000-46404800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr16:46404000-46404800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr16:46404000-46404800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr16:46404000-46404800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr16:46404000-46404800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr16:46404000-46404800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr16:46404000-46404800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr16:46404000-46404800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr16:46404000-46404800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr16:46404000-46404800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr16:46404000-46404800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr16:46404000-46404800	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr16:46404000-46404800	Weak transcription	Primary B cells from cord blood	blood
32	chr16:46404000-46404800	Weak transcription	Primary B cells from peripheral blood	blood
33	chr16:46404000-46404800	Weak transcription	Primary T cells from cord blood	blood
34	chr16:46404000-46404800	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr16:46404000-46404800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr16:46404000-46404800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr16:46404000-46404800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr16:46404000-46404800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr16:46404000-46404800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr16:46404000-46404800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr16:46404000-46404800	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr16:46404000-46404800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr16:46404000-46404800	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr16:46404000-46404800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr16:46404000-46404800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr16:46404000-46404800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr16:46404000-46404800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr16:46404000-46404800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr16:46404000-46404800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr16:46404000-46404800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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